Cytogenetics Database CytoD 1.0
Search Results:
Query: dup Search Results: dup Comment in: Hum Genet. 1989 Sep;83(2):205-7.
Hum Genet. 1988 Dec;80(4):322-8.
dup No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome.
Am J Med Genet. 2001 Apr 1;99(4):335-7.
dup Dup(12)(q13-q22) and 13q14 deletion in a case of B-cell chronic lymphocytic leukemia.
Acta Haematol. 2000;104(4):197-201.
dup Recurrent neuroleptic malignant syndrome associated with inv dup(15) and mental retardation.
Clin Genet. 1991 Jan;39(1):65-7.
dup Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region.
Am J Med Genet. 2004 Nov 18; [Epub ahead of print]
dup De novo partial duplications 1p: report of two new cases and review.
Am J Med Genet. 1999 Jan 29;82(3):261-4.
dup Clinical syndromes associated with partial duplications of chromosomes 2 and 3: dup(2p),dup(2q),dup(3p),dup(3q).
Birth Defects Orig Artic Ser. 1978;14(6C):191-217.
dup Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation.
J Med Genet. 1996 Jul;33(7):615-7.
dup "Essentially pure" partial trisomy (6)(p23-->pter) in two brothers due to maternal t(6;17)(p23;p13.3).
Am J Med Genet. 1999 Aug 6;85(4):389-94.
dup A malformed girl with duplication of chromosome 9q.
J Med Genet. 1984 Oct;21(5):387-8.
dup Duplication 3q syndrome: molecular delineation of the critical region.
Am J Med Genet. 1995 Jan 2;55(1):33-7.
dup The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy.
Neurology. 1997 Apr;48(4):1081-6.
dup Distinct patterns of chromosome abnormalities characterize childhood non-Hodgkin's lymphoma.
Br J Haematol. 1992 Jan;80(1):15-20.
dup Wisniewski LP, Doherty RA.
a report of three cases.
dup Comment in: J Med Genet. 2002 Oct;39(10):775-8.
J Med Genet. 1993 Sep;30(9):756-60.
dup FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation.
Am J Med Genet. 2001 Nov 1;103(4):289-94.
dup Duplication of 7p: further delineation of the phenotype and restriction of the critical region to the distal part of the short arm.
Am J Med Genet. 1996 Jan 2;61(1):21-5.
dup Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).
J Med Genet. 1996 Dec;33(12):1045-7.
dup [Therapy-related MDS/leukemia carrying dup(11) (q21q23) with MLL gene tandem duplication]
Rinsho Ketsueki. 1998 Dec;39(12):1163-8.
dup A t(8;14)(q24;q32) in a T-lymphoma/leukemia of CD8+ large granular lymphocytes.
Leukemia. 1987 Dec;1(12):789-94.
dup Familial inverted duplication 7p.
Am J Med Genet. 1995 Mar 27;56(2):184-7.
dup Infantile spasms associated with proximal duplication of chromosome 15q.
Pediatr Neurol. 1996 Sep;15(2):163-5.
dup Mild "duplication 6q syndrome": a case with partial trisomy (6)(q23.3q25.3).
Am J Med Genet. 1997 Feb 11;68(4):450-4.
dup Comment in: Am J Med Genet. 1989 Dec;34(4):616.
Am J Med Genet. 1989 Mar;32(3):346-9.
dup Inverted duplications: how many of them are mosaic?
Eur J Hum Genet. 2004 Sep;12(9):713-7.
dup Molecular analysis of an extra inv dup(15)(q13) chromosome in two patients with Angelman syndrome.
Acta Genet Med Gemellol (Roma). 1996;45(1-2):217-20.
dup Acute myelogenous leukemia with dup(1)(p22p36),dup(1)(p22p36): a novel case?
Cancer Genet Cytogenet. 1996 Mar;87(1):48-51.
dup Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy.
Prenat Diagn. 1998 Dec;18(12):1304-7.
dup Submicroscopic terminal deletion of 1p36.3 and Xp23 hidden in complex chromosome rearrangements: independent mechanism of telomere restitution on the two chromatids.
Am J Med Genet. 2003 Mar 15;117A(3):261-7.
dup Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13.
Am J Med Genet. 1995 May 22;57(1):61-5.
dup De novo partial duplication of long arm of chromosome 13: dup(13)(q12-->q14)
Am J Med Genet. 2000 Jun 5;92(4):296-7.
dup Variable phenotype associated with duplication of different regions of 2p.
Am J Med Genet. 1983 Jul;15(3):451-6.
dup Detection of a dup(17q) and inv(16) by fluorescence in situ hybridization in acute myelomonocytic leukemia.
Cancer Genet Cytogenet. 1997 Oct 1;98(1):87-9.
dup Brief clinical report: the dup(17p) syndrome.
Am J Med Genet. 1982 Mar;11(3):299-304.
dup Jumping translocation in a newborn boy with dup(4q) and severe hydrops fetalis.
Am J Med Genet. 1994 Aug 15;52(2):214-7.
dup 10p duplication characterized by fluorescence in situ hybridization.
Am J Med Genet. 1994 Sep 1;52(3):315-8.
dup Multiple karyotypic aberrations in a polymorphous variant of Waldenström macroglobulinemia.
Cancer Genet Cytogenet. 1999 May;111(1):77-80.
dup Intrachromosomal triplication of 15q11-q13.
J Med Genet. 1994 Oct;31(10):798-803.
dup A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.
J Med Genet. 1998 Feb;35(2):169-72.
dup Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA.
Am J Hum Genet. 1994 May;54(5):877-83.
dup Karyotypic changes in phyllodes tumors of the breast.
Cancer Genet Cytogenet. 1994 Dec;78(2):200-6.
dup Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment.
Am J Med Genet. 2003 Jun 1;119A(2):111-20.
dup The dup(3)(p25 leads to pter) syndrome: a case with holoprosencephaly.
Am J Med Genet. 1983 Apr;14(4):767-72.
dup Letter: Partial trisomy 15 (dup15q) syndrome and the need for precision in clinical cytogenetics.
J Pediatr. 1975 Nov;87(5):842-3.
dup Familial t(4;13) with abnormal offspring in three generations.
Am J Med Genet. 1983 Sep;16(1):15-22.
dup Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome.
Am J Med Genet. 1999 Jul 16;85(2):185-8.
dup Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
Nat Genet. 1997 Oct;17(2):154-63.
dup Cytogenetic analysis of SV40-transformed human breast epithelial cells.
Cancer Genet Cytogenet. 1983 Mar;8(3):213-21.
dup Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization.
Am J Med Genet. 1993 Dec 1;47(8):1198-201.
dup Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15.
Seizure. 2000 Mar;9(2):145-50.
dup Identification of a marker chromosome as inv dup(15) by molecular analysis.
Clin Genet. 1991 Sep;40(3):233-6.
dup Identification and molecular confirmation of a small chromosome 10q duplication [dir dup(10)(q24.2-->q24.3)] inherited from a mother mosaic for the abnormality.
Am J Med Genet. 1996 Jan 2;61(1):16-20.
dup Identification of a putative regulatory subunit of a calcium-activated potassium channel in the dup(3q) syndrome region and a related sequence on 22q11.2.
Genomics. 1999 Nov 15;62(1):90-4.
dup Karyotypic patterns in chronic myeloproliferative disorders: report on 74 cases and review of the literature.
Leukemia. 1991 Mar;5(3):214-20.
dup A Down syndrome case with a karyotype of 46,XY,rec(21)dup(21q)inv(21)(p11q22) derived from paternal pericentric inversion of chromosome 21.
Clin Genet. 2001 May;59(5):368-70.
dup A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter).
Ann Genet. 1999;42(2):91-4.
dup DiGeorge anomaly in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction.
Am J Med Genet. 1991 Mar 15;38(4):569-73.
dup High resolution pattern of an inverted duplication (15).
Clin Genet. 1986 Mar;29(3):241-5.
dup Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.
Am J Med Genet Suppl. 1990;7:104-9.
dup Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome.
Hum Genet. 1993 Sep;92(2):127-32.
dup Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome.
Hum Genet. 1994 Aug;94(2):149-53.
dup Prenatal diagnosis of a dup(3p) with holoprosencephaly.
Am J Med Genet. 1987 Jan;26(1):225-7.
dup Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene.
Hum Genet. 1998 Feb;102(2):151-6.
dup Prenatal detection of maternal UPD15 in a new case with i(15p) by Timing Replication Test (TRT) and methylation analysis.
J Appl Genet. 2003;44(2):209-18.
dup Clinical and molecular analysis of five inv dup(15) patients.
Eur J Hum Genet. 1993;1(1):37-50.
dup Physical mapping of a tandem duplication on the long arm of chromosome 7 associated with a multidrug resistant phenotype.
Cancer Genet Cytogenet. 1999 Apr;110(1):28-33.
dup Partial hexasomy of chromosome 15.
Am J Med Genet. 2003 Sep 1;121A(3):277-80.
dup Role of genomic imprinting in Wilms' tumour and overgrowth disorders.
Med Pediatr Oncol. 1996 Nov;27(5):470-5.
dup Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.
Clin Genet. 2000 Aug;58(2):116-22.
dup Inactivation centers in the human X chromosome.
Am J Hum Genet. 1982 Mar;34(2):182-94.
dup Trisomy 14 mosaicism in a liveborn male: clinical report and review of the literature.
Am J Med Genet. 1986 Apr;23(4):925-30.
dup Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature.
Ann Genet. 1999;42(2):101-4.
dup Interstitial dup(1p) and severe intrauterine growth retardation.
Ann Genet. 1988;31(2):129-31.
dup De novo duplication of 17p [dup(17)(p12----p11.2)]: report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects.
Am J Med Genet. 1991 Dec 15;41(4):446-50.
dup A prenatally detected inv dup(15).
Am J Med Genet. 1984 Aug;18(4):751-3.
dup De novo inverted duplication 9p21pter involving telomeric repeated sequences.
Am J Med Genet. 1999 Mar 12;83(2):125-31.
dup Trisomy 16p in a liveborn infant and review of trisomy 16p.
Am J Med Genet. 1992 Feb 1;42(3):316-9.
dup FISH analysis in detecting 9p duplication (p22p24).
Am J Med Genet. 2000 Jan 3;90(1):35-7.
dup A patient with dup(10p)del(8q) and Pendred syndrome.
Am J Med Genet. 1986 Jun;24(2):211-7.
dup Two extra inv dup(15) chromosomes and male infertility: second case.
Am J Med Genet. 1992 Feb 1;42(3):402-3.
dup Partial trisomy 3q syndrome inherited from familial t(3;9)(q26.1; p23).
Clin Genet. 1987 Aug;32(2):137-43.
dup Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature.
Am J Med Genet. 1992 Jun 1;43(3):621-5.
dup Comment in: Am J Med Genet. 1995 Sep 11;58(3):237.
Am J Med Genet. 1995 Sep 11;58(3):230-6.
dup Hypomelanosis of ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism.
Ann Genet. 2000 Jan-Mar;43(1):39-43.
dup Duplication of 2p25: confirmation of the assignment of soluble acid phosphatase (ACP1) locus to 2p25.
Hum Genet. 1985;71(3):259-60.
dup Cytogenetic characterization of a familial papillary renal cell carcinoma.
Cancer Genet Cytogenet. 1995 Oct 15;84(2):123-7.
dup Blastic mantle cell lymphoma associated with Burkitt-type translocation and hypodiploidy.
Br J Haematol. 2001 Oct;115(1):66-8.
dup Second meiotic nondisjunction of the rearranged chromosome in a familial reciprocal 5/13 translocation.
Am J Med Genet. 1991 Oct 1;41(1):32-4.
dup Clinicopathologic conference: dup(10q),del(12p) in one abnormal, dizygotic twin infant of a t(10;12) (q22.1;p13.3) mother.
Am J Med Genet. 1984 Jun;18(2):201-13.
dup Acute leukemia presenting a variant Ph chromosome with p190 expression, dup 3q and -7, developed after malignant lymphoma treated with alkylating agents and topoisomerase II inhibitors.
Leukemia. 1995 Sep;9(9):1483-6.
dup Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35).
J Med Genet. 1994 Aug;31(8):652-3.
dup Familial t(8;15)(p23.3;q22.3): report of two cases with dup(15) (q22.3----qter).
J Med Genet. 1987 Nov;24(11):684-7.
dup
:p14 approximately 15-->neo-->pter), which is the first report of partial
dup The value of chromosome analysis in cases of neural tube defects: a case of anencephaly associated with fetal dup(2)(p24----pter).
Prenat Diagn. 1987 Oct;7(8):567-71.
dup [Analysis of chromosome translocations involving MML by hybridization with an oligonucleotide microarray]
Mol Biol (Mosk). 2004 May-Jun;38(3):449-56.
dup A new case of dup(1)(q21.2q12) in an individual with mild mental retardation.
Genet Couns. 2003;14(4):407-11.
dup Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13).
Genet Couns. 2002;13(3):303-7.
dup [Transitory neonatal diabetes]
An Esp Pediatr. 2001 Apr;54(4):394-6.
dup De novo interstitial direct duplication of 15q: 46,XY,dir dup(15) (pter leads to q24::q14 leads to q21 X 1::q24 leads to qter).
J Med Genet. 1983 Dec;20(6):473-5.
dup Molecular and cytogenetic characterization of 9p- abnormalities.
Am J Med Genet. 1993 May 15;46(3):288-92.
dup Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.
Eur J Hum Genet. 2004 Oct 06; [Epub ahead of print]
dup dup(10q) lacking alpha-satellite DNA in bone marrow cells of a patient with acute myeloid leukemia.
Cancer Genet Cytogenet. 1996 Jul 1;89(1):1-6.
dup Chromosome duplications and deletions and their mechanisms of origin.
Cytogenet Cell Genet. 1999;85(3-4):285-90.
dup A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome.
Am J Med Genet. 1999 Jan 15;82(2):183-6.
dup Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event.
J Med Genet. 2003 Aug;40(8):e93.
dup Dup(3)(p2----pter) in two families, including one infant with cyclopia.
Am J Med Genet. 1985 Feb;20(2):341-8.
dup Precise mapping of a de novo duplication 18(q21-->q22) utilizing cytogenetic, biochemical, and molecular techniques.
Am J Med Genet. 1993 Jun 15;46(5):520-3.
dup Interstitial Dup(1p) with findings of Kabuki make-up syndrome.
Am J Med Genet. 1998 Jun 16;78(1):55-7.
dup 20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 Mb.
Am J Med Genet. 2002 Oct 1;112(2):154-9.
dup Delineation of a duplication map of chromosome 3q: a new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region.
Am J Med Genet. 1997 Feb 11;68(4):428-32.
dup Unique mosaicism in Prader-Labhart-Willi syndrome--a contiguous gene or aneuploidy syndrome?
Am J Med Genet. 1987 Dec;28(4):803-11.
dup Nonreciprocal and jumping translocations of 15q1----qter in Prader-Willi syndrome.
Am J Med Genet. 1990 Nov;37(3):311-7.
dup Duplication 9q34-->qter identified by chromosome painting.
Am J Med Genet. 1993 Mar 1;45(5):609-13.
dup Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.
J Med Genet. 1998 May;35(5):425-8.
dup Brief clinical report: duplication of distal 17q: report of an observation.
Am J Med Genet. 1984 Mar;17(3):633-9.
dup Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency.
Hum Genet. 1982;61(1):12-7.
dup Inv dup(15) supernumerary marker chromosomes.
J Med Genet. 1994 Aug;31(8):585-94.
dup Two different karyotypes with 1q abnormalities in a patient with Fanconi anemia.
Leuk Res. 2002 Nov;26(11):1047-9.
dup Cytogenetic findings in a case of pediatric glioblastoma.
Cancer Genet Cytogenet. 1992 Nov;64(1):75-9.
dup Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.
Am J Med Genet. 2004 Sep 1;129A(3):261-4.
dup Growth hormone deficiency and empty sella syndrome in a boy with dup(X) (q13.3----q21.2).
Am J Med Genet. 1992 Mar 1;42(5):660-4.
dup Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan.
Eur J Pediatr. 1998 Feb;157(2):122-7.
dup De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype.
Am J Med Genet. 2003 Jan 1;116A(1):71-6.
dup A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.
J Med Genet. 1996 Sep;33(9):767-71.
dup Delineation of a characteristic phenotype in distal trisomy 2q.
Helv Paediatr Acta. 1984 Dec;39(5-6):499-508.
dup A unique clone involving multiple structural chromosome rearrangements in a myelodysplastic syndrome case.
Cancer Genet Cytogenet. 2003 Jan 15;140(2):138-44.
dup A unique patient with an Ullrich-Turner syndrome variant and mosaicism for a tiny r(X) and a partial proximal duplication 1q.
Am J Med Genet. 2004 Jan 30;124A(3):303-6.
dup Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.
Genomics. 2000 Oct 15;69(2):174-81.
dup Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Nat Genet. 2000 Jan;24(1):84-7.
dup Periventricular heterotopia associated with chromosome 5p anomalies.
Neurology. 2003 Mar 25;60(6):1033-6.
dup Duplication of the terminal band of the long arm of chromosome 7: a new case.
Genet Couns. 2004;15(1):87-90.
dup Duplication 6q21q23 in two unrelated patients.
Am J Med Genet. 1998 Nov 2;80(2):112-4.
dup Two novel in vitro human hepatoblastoma models, HepU1 and HepU2, are highly characteristic of fetal-embryonal differentiation in hepatoblastoma.
Int J Cancer. 2003 Jun 20;105(3):347-52.
dup Duplication of the short arm of the X chromosome in mother and daughter.
Hum Genet. 1993 May;91(4):395-400.
dup Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations.
Am J Hum Genet. 1990 Dec;47(6):968-72.
dup Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): further delineation of trisomies 1q.
Fetal Diagn Ther. 2001 Sep-Oct;16(5):265-73.
dup [RFLPs study of parental origin and mechanism of 3 cases with X chromosome structural abnormality]
Yi Chuan Xue Bao. 1992;19(4):298-303.
dup Familial translocation 5;14 resulting in an unbalanced offspring.
Am J Med Genet. 1991 Jun 1;39(3):362-6.
dup "De novo" duplication Xq23-->Xq26 of paternal origin in a girl with a mildly affected phenotype.
Am J Med Genet. 1997 Jun 27;70(4):404-8.
dup Distal trisomy of 10q. Report of a new case of duplication 10q25.2-25.3-->qter defined by FISH.
Ann Genet. 2002 Jan-Mar;45(1):9-12.
dup Phenotypic variability of Cat-Eye syndrome.
Genet Couns. 2001;12(1):23-34.
dup Interstitial duplication of the short arm of chromosome 1 in a newborn with congenital heart disease and multiple malformations.
Am J Med Genet. 2001 Jun 15;101(2):100-5.
dup Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis.
Prenat Diagn. 2003 Apr;23(4):319-22.
dup Comment in: Am J Med Genet. 1989 Oct;34(2):265. Am J Med Genet. 1990 Nov;37(3):431-2.
Am J Med Genet. 1988 Aug;30(4):929-38.
dup Confirmation of a cryptic unbalanced translocation using whole chromosome fluorescence in situ hybridization.
Am J Med Genet. 1992 Nov 1;44(4):477-81.
dup Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.
Am J Med Genet. 1996 Feb 2;61(4):377-81.
dup Confirmation of proximal 1q duplication using fluorescence in situ hybridization.
Am J Med Genet. 1994 Mar 1;50(1):28-31.
dup Phenotype-karyotype correlations in dup(18q): report of a case and review.
Am J Med Genet. 1985 Jul;21(3):591-5.
dup Spastic quadriplegia in Western Australia. II: Pedigrees and family patterns of birthweight and gestational age.
Dev Med Child Neurol. 1993 Mar;35(3):202-15.
dup A case of de novo i(12p) with 12q whole-arm translocation mosaicism.
Am J Med Genet. 1989 Aug;33(4):453-6.
dup Two Down syndrome patients with rec(21),dupq,inv(21)(p11;q2109) from a familial pericentric inversion.
Ann Genet. 1986;29(3):181-3.
dup Duplication of chromosome 10p: confirmation of regional assignments of platelet-type phosphofructokinase.
Am J Hum Genet. 1984 Jul;36(4):750-9.
dup Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.
Am J Hum Genet. 2003 Dec;73(6):1302-15. Epub 2003 Nov 24.
dup Cytogenetic study of malignant triton tumor: a case report.
Cancer Genet Cytogenet. 2003 Jul 15;144(2):100-5.
dup Cytogenetic studies on a patient with prepubertal breast cancer: a case report.
Breast Cancer Res Treat. 1996;39(3):343-7.
dup Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma.
Int J Cancer. 1995 Aug 9;62(4):398-402.
dup Duplication of 16p from insertion of 16p into 16q with subsequent duplication due to crossing over within the inserted segment.
Am J Med Genet. 1983 Jan;14(1):89-96.
dup Paternal origin of a small, class I inv dup(15).
Am J Med Genet. 2002 Feb 1;107(4):334-6.
dup Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase.
J Med Genet. 1990 Feb;27(2):135-6.
dup Familial dup(5)(q15q21) associated with normal and abnormal phenotypes.
Am J Med Genet. 1998 Jan 6;75(1):75-7.
dup A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p).
Cytogenet Cell Genet. 2000;91(1-4):85-9.
dup Maternal origin of inv dup(15) chromosomes in infantile autism.
Eur Child Adolesc Psychiatry. 1996 Dec;5(4):185-92.
dup Partial trisomy for short arm of chromosome 5.
Acta Paediatr Jpn. 1993 Aug;35(4):336-9.
dup Comment in: Am J Med Genet. 2000 Dec 11;95(4):406.
Am J Med Genet. 1993 Apr 1;46(1):72-6.
dup Molecular cytogenetic characterization of a recombinant chromosome rec(22)dup(22q)inv(22)(p13q12.2).
Am J Med Genet. 2004 Jan 1;124A(1):92-5.
dup De novo trisomy 16p.
Am J Med Genet. 1997 Jan 20;68(2):219-21.
dup 46,XY,dup(10q) in direct CVS preparation and mosaic 48,XXXY,dup(10q) in CVS long-term culture and fetal tissue.
Prenat Diagn. 1995 Mar;15(3):285-90.
dup Duplication of 7q31.2----7qter and deficiency of 18qter: report of two patients and literature review.
Am J Med Genet. 1986 Nov;25(3):477-88.
dup Deletion(2)(p23) abnormality in a case of secondary acute myeloid leukemia.
Cancer Genet Cytogenet. 1993 Apr;66(2):126-7.
dup Subchromosomal band interval mapping and ordering of DNA markers in the region 3q26.3-q27 involved in the dup(3q) syndrome.
Genomics. 1994 Dec;24(3):580-2.
dup Three cases of dup(10p)/del(10q) syndrome resulting from maternal pericentric inversion.
Am J Med Genet. 1993 Nov 1;47(6):817-9.
dup Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1----p22).
Clin Genet. 1985 Dec;28(6):546-9.
dup Normal phenotype with paternal uniparental isodisomy for chromosome 21.
Am J Hum Genet. 1993 Nov;53(5):1074-8.
dup Metastatic sublines of an SV40 large T antigen immortalized human prostate epithelial cell line.
Prostate. 1998 Mar 1;34(4):275-82.
dup Comment on: J Med Genet. 1999 Mar;36(3):246-50. J Med Genet. 2000 Oct;37(10):807-10.
J Med Genet. 2003 Mar;40(3):e27.
dup Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals.
Hum Genet. 2000 Jul;107(1):51-7.
dup Mild phenotype due to tandem duplication of l7p11.2.
Am J Med Genet. 2000 Oct 2;94(4):296-9.
dup Comment in: J Med Genet. 2000 Sep;37(9):723-5. J Med Genet. 2003 Mar;40(3):e27.
J Med Genet. 1999 Mar;36(3):246-50.
dup Preferential maternal derivation in inv dup(15): analysis of eight new cases.
Hum Genet. 1981;57(4):345-50.
dup Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.
Am J Med Genet. 1999 Aug 6;85(4):369-75.
dup Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5.
Hum Genet. 1983;63(1):78-81.
dup A rare case of a de novo dup(19q) associated with a mild phenotype.
J Med Genet. 2002 Oct;39(10):E61.
dup Dup(12p) and hypoplastic left heart.
Am J Med Genet. 1981;9(3):195-9.
dup Trisomy 7p due to a mosaic normal/dir dup(7)(p13----p22). Syndrome delineation, critical segment assignment, and a comment on duplications.
Ann Genet. 1985;28(4):254-7.
dup Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry.
J Med Genet. 2000 Oct;37(10):804-7.
dup The phenotype of partial dup(7q) reconsidered: a report of five new cases.
Clin Genet. 1988 Jul;34(1):48-59.
dup Cryptic duplication of 21q in an individual with a clinical diagnosis of Down syndrome.
Clin Genet. 2001 Jun;59(6):438-43.
dup Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.
Am J Med Genet. 2000 Mar 20;91(3):167-70.
dup Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review.
Genet Couns. 1996;7(2):135-42.
dup Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies.
Am J Med Genet. 1984 Apr;17(4):723-30.
dup Molecular cytogenetic analysis of a pleuropulmonary blastoma.
Cancer Genet Cytogenet. 2003 Apr 1;142(1):65-9.
dup Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation.
J Med Genet. 1981 Jun;18(3):228-31.
dup Cytogenetic analysis of a leiomyosarcoma of the kidney.
Cancer Genet Cytogenet. 1994 Feb;72(2):126-9.
dup Opposite imbalances of distal 14q in two unrelated patients.
Ann Genet. 1992;35(2):97-100.
dup Autosomal XX sex reversal caused by duplication of SOX9.
Am J Med Genet. 1999 Dec 3;87(4):349-53.
dup Confirmation of a de novo duplication, dup(10)(q24 leads to q26), by GOT1 gene dosage studies.
Hum Genet. 1983;63(4):369-73.
dup Duplication 5q(5q22----5q33): from an intrachromosomal insertion.
Am J Med Genet. 1985 Jan;20(1):57-62.
dup Family with partial monosomy 10p and trisomy 10p.
Am J Med Genet. 1995 Mar 27;56(2):136-40.
dup The dup(3q) syndrome: report of eight cases and review of the literature.
Am J Med Genet. 1981;10(2):159-77.
dup Pre- and postnatal diagnosis of trisomy 4 mosaicism.
Am J Med Genet. 1990 Nov;37(3):362-5.
dup A clinical syndrome associated with dup(5p).
Am J Med Genet. 1982 Nov;13(3):277-83.
dup Three new cases of chromosome 3 rearrangement in bands q21 and q26 with abnormal thrombopoiesis bring further evidence to the existence of a 3q21q26 syndrome.
Cancer Genet Cytogenet. 1992 Apr;59(2):138-60.
dup Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15.
Am J Med Genet. 2002 Sep 1;111(4):366-75.
dup Partial duplication of 3q and distal deletion of 10q inherited from a maternal balanced translocation.
J Formos Med Assoc. 2004 Nov;103(11):853-7.
dup No evidence for DUP25 in patients with panic disorder using a quantitative real-time PCR approach.
Hum Genet. 2003 Dec;114(1):115-7. Epub 2003 Sep 25.
dup Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.
J Med Genet. 2000 Apr;37(4):281-6.
dup Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19.
Am J Med Genet. 1997 Aug 22;71(3):325-8.
dup Large inv dup(15) chromosome in two generations.
J Med Genet. 1996 Mar;33(3):261-2.
dup De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype.
Am J Med Genet. 1999 Dec 3;87(4):302-5.
dup Numerical and structural chromosome abnormalities in an ovarian fibrothecoma.
Cancer Genet Cytogenet. 1995 Aug;83(1):84-6.
dup Inherited aplastic anemia with abnormal clones in bone marrow and increased endoreduplication in peripheral lymphocytes.
Cancer Genet Cytogenet. 1984 Nov;13(3):259-66.
dup Partial duplication of distal 17q.
Am J Med Genet. 1985 Oct;22(2):229-35.
dup Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients.
Pediatr Neurol. 2001 Feb;24(2):111-6.
dup Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
Nat Genet. 1992 Apr;1(1):29-33.
dup A translocation (8;14) in a cutaneous large B-cell lymphoma.
Am J Clin Pathol. 1993 May;99(5):615-21.
dup Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features.
Genet Couns. 2001;12(1):85-9.
dup Midtrimester diagnosis and anomalies in the dup(22q) syndrome: correlation of aneuploidy with low maternal serum alpha-fetoprotein and oligohydramnios.
Am J Med Genet. 1990 May;36(1):94-6.
dup Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.
Am J Med Genet. 2001 Jul 1;101(3):226-39.
dup Pubertal disorders in inv dup(15) syndrome.
Gynecol Endocrinol. 2001 Jun;15(3):165-9.
dup Direct duplication of chromosome 1, dir dup(1)(p21.2----p32) in a Bedouin boy with multiple congenital anomalies.
Am J Med Genet. 1989 Mar;32(3):353-5.
dup Cytogenetic and clinical studies in five cases of inv dup(15).
Hum Genet. 1979 Sep;50(3):259-70.
dup Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: origin of the abnormal chromosomes.
Eur J Hum Genet. 1995;3(1):49-55.
dup Duplication of 9q12-q33: a case report and implications for the dup(9q) syndrome.
Am J Med Genet. 1993 Feb 15;45(4):456-9.
dup Duplication and deletion of chromosome band 2(p21p22) resulting from a familial interstitial insertion (2;11)(p21;p15).
Am J Med Genet. 1994 Feb 15;49(4):422-7.
dup Intrachromosomal insertion translocation resulting in duplication of chromosome band Yq11.2 in two fertile brothers.
Am J Med Genet. 2003 Apr 30;118A(3):287-9.
dup Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation.
Am J Med Genet. 1997 Oct 31;72(3):329-34.
dup Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis.
Prenat Diagn. 1993 May;13(5):385-94.
dup Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin.
Eur J Hum Genet. 1997 Nov-Dec;5(6):417-9.
dup Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes.
Hum Genet. 1997 Jan;99(1):11-7.
dup Further delineation of the dup(3q) syndrome.
Am J Med Genet. 1985 Sep;22(1):117-23.
dup De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2).
J Med Genet. 1984 Feb;21(1):57-8.
dup Molecular cytogenetic characterization and origin of two de novo duplication 9p cases.
Am J Med Genet. 2000 Mar 13;91(2):102-6.
dup Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient.
Hum Genet. 1999 Jan;104(1):56-63.
dup Pericentric inversion of chromosome 4 giving rise to dup(4p) and dup(4q) recombinants within a single kindred.
Am J Med Genet. 1993 Jan 1;45(1):5-8.
dup Prenatal exclusion of segmental trisomy in familial chromosome 21 pericentric inversion by fluorescence in situ hybridization.
Prenat Diagn. 1997 Sep;17(9):871-3.
dup Recurrent chromosome abnormalities in peripheral T-cell lymphomas.
Cancer Genet Cytogenet. 1994 Nov;78(1):15-22.
dup Erratum in: Clin Dysmorphol 1998 Oct;7(4):307-8.
Clin Dysmorphol. 1998 Jul;7(3):171-6.
dup Case report of rec(7)dup(7q)inv(7)(p22q22) and a review of the recombinants resulting from parental pericentric inversions on any chromosomes.
Am J Med Genet. 1997 Dec 19;73(3):290-5.
dup Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.
Am J Med Genet. 2001 Nov 22;104(2):127-30.
dup Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
Am J Hum Genet. 2001 Apr;68(4):874-83. Epub 2001 Feb 26.
dup Reproductive outcomes of paracentric inversion carriers: report of a liveborn dicentric recombinant and literature review.
Hum Genet. 1984;67(2):126-31.
dup An unusual chromosome aberration 47,XX,+21,dup(12)(q13----q24),dup(12)(q13----q24) in a girl with Down syndrome and acute monocytic leukemia.
Cancer Genet Cytogenet. 1991 Aug;55(1):97-100.
dup Cytogenetic studies of composite lymphomas: monocytoid B-cell lymphoma and other B-cell non-Hodgkin's lymphomas.
Hum Pathol. 1993 Oct;24(10):1086-94.
dup Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4.
Am J Med Genet. 2001 Jul 22;102(1):76-80.
dup Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation.
Am J Med Genet. 1987 Jan;26(1):203-6.
dup Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection.
Am J Med Genet. 1997 Aug 8;71(2):160-6.
dup A de novo 3p;8p unbalanced translocation resulting in partial dup(3p) and partial del(8p).
J Med Genet. 1987 Mar;24(3):174-7.
dup Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12).
Genet Couns. 2004;15(1):73-80.
dup Supernumary marker chromosomes in a mentally retarded population identified as inv dup(15).
Clin Genet. 1987 Jun;31(6):425-8.
dup Duplication 8 [inv dup(8)(p12p23)] with macrocephaly.
Ann Genet. 2001 Oct-Dec;44(4):195-9.
dup Parental origin and mechanism of formation of X chromosome structural abnormalities: four cases determined with RFLPs.
Jinrui Idengaku Zasshi. 1990 Sep;35(3):245-51.
dup Two inv dup(15) chromosomes in a woman with repeated abortions.
Am J Med Genet. 2001 Dec 15;104(4):303-6.
dup Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
Genomics. 2002 Feb;79(2):186-96.
dup Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female.
J Med Genet. 1998 Jul;35(7):600-3.
dup A mild phenotype associated with der(9)t(3;9) (p25;p23).
J Med Genet. 1996 Jul;33(7):625-7.
dup Recombinant Down syndrome: a case report and literature review.
Clin Genet. 2001 Feb;59(2):128-30.
dup Molecular cytogenetic analysis of a nontumorigenic human breast epithelial cell line that eventually turns tumorigenic: validation of an analytical approach combining karyotyping, comparative genomic hybridization, chromosome painting, and single-locus fluorescence in situ hybridization.
Genes Chromosomes Cancer. 1997 Sep;20(1):30-7.
dup Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4.
Am J Med Genet. 2002 Sep 15;112(1):103-6.
dup Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat.
Prenat Diagn. 1999 Dec;19(12):1150-6.
dup Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.
Am J Med Genet. 1993 Sep 1;47(3):383-6.
dup Paradoxical eyelid movement in trisomy 2p.
Pediatr Neurol. 2002 Mar;26(3):236-8.
dup Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.
Genome Res. 2002 May;12(5):729-38.
dup Isolation and molecular analysis of inv dup(15) and construction of a physical map of a common breakpoint in order to elucidate their mechanism of formation.
Chromosoma. 2000 Nov;109(7):498-505.
dup De novo inverted interstitial ("mirror") duplication of chromosome 8(q13----q24.1) in a liveborn male.
Am J Med Genet. 1990 Apr;35(4):529-31.
dup Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization.
Am J Med Genet. 1995 Jan 2;55(1):85-94.
dup Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.
Am J Hum Genet. 1994 Oct;55(4):753-9.
dup Comment on: Am J Med Genet. 1989 Jan;32(1):19-21.
Am J Med Genet. 1990 Mar;35(3):447-8.
dup Associated medical disorders and disabilities in children with autistic disorder: a population-based study.
Autism. 2004 Mar;8(1):49-60.
dup Inverted distal duplication of the long arm of chromosome 8: borderline intelligence and discrete dysmorphic syndrome.
Genet Couns. 1991;2(2):109-13.
dup Duplication (5p13 leads to pter): prenatal diagnosis and review of the literature.
Am J Med Genet. 1982 May;12(1):43-9.
dup Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.
Am J Hum Genet. 2002 Nov;71(5):1072-81. Epub 2002 Oct 09.
dup Direct duplication 16q11.1----16q13 is not associated with a typical dysmorphic syndrome.
Ann Genet. 1990;33(1):46-8.
dup Characterization of a de novo duplication of 11p14----p13, using fluorescent in situ hybridization and southern hybridization.
Cytogenet Cell Genet. 1991;56(3-4):129-31.
dup Prader-Willi-like syndrome in a patient with an Xq23q25 duplication.
Am J Med Genet. 1998 Nov 16;80(3):227-31.
dup First report of mosaic trisomy 12 in a liveborn individual.
Am J Med Genet. 1983 Mar;14(3):453-60.
dup Aggressive NK cell lymphoma/leukemia with clonal der(3)t(1;3) (q12;p25), del(6)(q13) and del(13)(q12q14).
Cancer Genet Cytogenet. 2001 Oct 15;130(2):150-4.
dup De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland.
Am J Med Genet. 1995 Feb 13;55(4):489-93.
dup Duplication of the distal part of the long arm of chromosome 1.
Am J Med Genet. 1991 Jun 1;39(3):258-69.
dup Partial monosomy 8p and partial trisomy 8p with moderate mental retardation.
Genet Couns. 1992;3(2):83-9.
dup Distinct dysmorphic syndrome in a child with inverted distal 5q duplication.
Ann Genet. 1987;30(3):186-8.
dup Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin.
Am J Med Genet. 1996 Mar 15;62(2):160-3.
dup Cystic hygroma and hydrops fetalis in dup(11p) syndrome.
Am J Med Genet. 1985 Oct;22(2):287-9.
dup Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome.
Clin Endocrinol (Oxf). 2002 May;56(5):671-5.
dup Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype.
Am J Med Genet. 1991 Dec 1;41(3):319-21.
dup Brief cytogenetic report on maternal translocation t(7;9) (p22:p13): two sibs with duplication 9p and one sib with the balanced translocation.
Am J Med Genet. 1985 Feb;20(2):265-9.
dup Duplication (20p) in association with thyroid carcinoma.
Am J Med Genet. 1993 Jan 1;45(1):14-6.
dup Rearrangements of chromosome arm 3q in poorly differentiated nasopharyngeal carcinoma.
Genes Chromosomes Cancer. 1992 Jun;4(4):326-30.
dup Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.
J Med Genet. 2000 Feb;37(2):114-20.
dup The evaluation of 15q proximal duplications by FISH.
Clin Genet. 1998 Dec;54(6):517-21.
dup Dup(1q)(q42-->qter) syndrome: case report and review of literature.
Am J Med Genet. 1993 Dec 1;47(8):1157-60.
dup Brief clinical report: neural tube defects in dup(11q).
Am J Med Genet. 1984 Sep;19(1):5-8.
dup Trisomy 20p resulting from inverted duplication and neocentromere formation.
Am J Med Genet. 1999 Aug 6;85(4):403-8.
dup Hemifacial microsomia and abnormal chromosome 22.
Am J Med Genet. 1998 Feb 26;76(1):71-3.
dup Emerging phenotype of duplication (7p): a report of three cases and review of the literature.
Am J Med Genet. 1989 Jul;33(3):364-8.
dup De novo direct tandem duplication of the short arm of chromosome 7(p21.1-p14.2).
Am J Med Genet. 1990 Jul;36(3):316-20.
dup Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation.
Am J Med Genet. 2002 Apr 22;109(2):149-53.
dup Origin of a paternal (13q;15q) translocation leading to dup(13q) in two half sibs.
Am J Med Genet. 1983 Apr;14(4):617-23.
dup Inherited tandem duplication dup(X) (q131-q212) in a male proband.
Clin Genet. 1985 Mar;27(3):276-81.
dup A case of inv dup(8p) with early onset breast cancer.
J Med Genet. 2000 Jan;37(1):70-1.
dup Partial duplication of chromosome 1q preceding the development of an L3 lymphoblastic leukemia with t(8;14), secondary to treatment for Hodgkin's disease.
Eur J Haematol. 1988 Mar;40(3):193-7.
dup Identification of a dup(5)(p15.3) by multicolor banding.
Clin Genet. 2002 Apr;61(4):277-82.
dup Mosaic tetrasomy 8p in two patients: clinical data and review of the literature.
Am J Med Genet. 1994 May 1;50(4):377-80.
dup A variant Burkitt-type translocation (8;22)(q24;q11) in multiple myeloma. Report of a new case and review of the literature.
Cancer Genet Cytogenet. 1998 Jul 15;104(2):98-103.
dup Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review.
J Med Genet. 2000 Jul;37(7):529-32.
dup Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities.
Am J Med Genet. 2002 Nov 22;113(2):125-36.
dup Two unusual chromosome aberrations ascertained by sonographic anomalies.
Prenat Diagn. 2004 Mar;24(3):219-23.
dup Cytogenetic evolution patterns in non-Hodgkin's lymphoma.
Blood. 1995 Nov 15;86(10):3905-14.
dup Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review.
Clin Genet. 2001 Nov;60(5):366-70.
dup Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization.
Prenat Diagn. 1994 Nov;14(11):1019-28.
dup Comparative genomic hybridization-assisted prenatal diagnosis of a de novo inverted duplication of chromosome 10q. A case report.
J Reprod Med. 2003 May;48(5):391-4.
dup Prognostic information from cytogenetic analysis in chronic B-lymphocytic leukemia and leukemic immunocytoma.
Blood. 1985 Jan;65(1):134-41.
dup Cytogenetic analysis and population study in P3HR-1 cell line derived from Burkitt's lymphoma.
Neoplasma. 1991;38(4):385-92.
dup Cytogenetic analysis in ataxia telangiectasia with malignant lymphoma.
Cancer Genet Cytogenet. 1992 Jun;60(2):158-63.
dup Structural rearrangements of chromosome 13 as additional abnormalities in Burkitt lymphoma and type 3 acute lymphoblastic leukemia.
Cancer Genet Cytogenet. 1992 Jun;60(2):206-9.
dup Mosaic tetrasomy 8q: inverted duplication of 8q23.3qter in an analphoid marker.
Am J Med Genet. 2000 May 1;92(1):69-76.
dup A new case of dup(3q) syndrome due to a pure duplication of 3qter.
Clin Genet. 2002 Oct;62(4):315-20.
dup Inheritance of chromosome 7 is associated with a drug-resistant phenotype in somatic cell hybrids.
Br J Cancer. 1996 Jan;73(2):169-74.
dup Cytogenetics in acute lymphoblastic leukemia in Mexican children: an institutional experience.
Arch Med Res. 2001 May-Jun;32(3):202-7.
dup Clonal chromosome aberrations in Philadelphia-negative cells from chronic myelocytic leukemia patients treated with imatinib mesylate: report of two cases.
Cancer Genet Cytogenet. 2003 Nov;147(1):78-80.
dup Cytogenetic investigations in three cell types of a Saudi family with ataxia telangiectasia.
Hum Genet. 1991 Jul;87(3):285-9.
dup Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome.
Am J Hum Genet. 2000 Mar;66(3):1138-44.
dup Chromosome aberrations in an alpha-fetoprotein-producing hepatoblastoma.
Genes Chromosomes Cancer. 1992 Jan;4(1):99-100.
dup Molecular definition of de novo and genetically transmitted WAGR-associated rearrangements of 11p13.
Cytogenet Cell Genet. 1989;50(2-3):70-4.
dup DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.
Am J Hum Genet. 1999 Feb;64(2):471-8.
dup Molecular analysis of breaks in BCL-1 proto-oncogene in B-cell lymphomas with abnormalities of 11q13.
Oncogene. 1989 Jul;4(7):929-34.
dup Mild generalized epilepsy and developmental disorder associated with large inv dup(15).
Epilepsia. 2002 Sep;43(9):1096-100.
dup De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p.
Am J Med Genet. 1994 Nov 15;53(3):216-21.
dup Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.
Am J Med Genet. 1986 Apr;23(4):853-9.
dup Prometaphase chromosomes in five patients with the Brachmann-de Lange syndrome.
Am J Med Genet. 1981;10(2):179-86.
dup Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.
Mol Cell Biol. 2003 May;23(10):3646-55.
dup Genomic rearrangements involving rDNA and centromeric heterochromatin in vulvar epidermoid carcinoma cell line A-431.
Cancer Genet Cytogenet. 2003 May;143(1):50-8.
dup Partial duplication 8p due to interstitial duplication: inv dup(8)(p21.1----p22). Further delineation of the phenotype from birth to adulthood.
Ann Genet. 1987;30(1):47-51.
dup Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.
Am J Hum Genet. 1994 May;54(5):748-56.
dup Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma.
Hum Genet. 1989 Feb;81(3):273-7.
dup Cytogenetic-morphologic correlations in aneurysmal bone cyst, giant cell tumor of bone and combined lesions. A report from the CHAMP study group.
Mod Pathol. 2000 Nov;13(11):1206-10.
dup Chromosome abnormalities in malignant lymphoma in patients from Kurashiki: histological and immunophenotypic correlations.
Cancer Res. 1990 May 1;50(9):2698-703.
dup Translocation trisomy dup(21q) and free trisomy 21 can be distinguished by interphase-FISH.
Int J Mol Med. 1999 Jan;3(1):11-4.
dup Cytogenetic characterization of two colon cell lines by using conventional G-banding, comparative genomic hybridization, and whole chromosome painting.
Cancer Genet Cytogenet. 2000 Aug;121(1):17-21.
dup De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon.
Am J Med Genet. 2001 Nov 15;104(1):42-6.
dup Cytogenetic and interphase FISH analyses of 73 basal cell and three squamous cell carcinomas: different findings in direct preparations and short-term cell cultures.
Cancer Genet Cytogenet. 2000 Apr 15;118(2):136-43.
dup Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation.
Prenat Diagn. 2000 Apr;20(4):349-52.
dup Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia.
Am J Med Genet. 2004 Apr 30;126A(3):290-2.
dup Primary marginal zone lymphoma of the thymus accompanied by chromosomal anomaly 46,X,dup(X)(p11p22).
Cancer Genet Cytogenet. 2002 Mar;133(2):142-7.
dup Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).
Hum Mol Genet. 2004 Feb 15;13(4):367-78. Epub 2004 Jan 06.
dup Prenatal diagnosis of mosaic distal 5p deletion and review of the literature.
Prenat Diagn. 2004 Jan;24(1):50-7.
dup Multicolor karyotyping and clinicopathological analysis of three intravascular lymphoma cases.
Mod Pathol. 2003 Jul;16(7):716-24.
dup U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8.
Am J Med Genet. 1994 Feb 15;49(4):384-7.
dup Multicolour fluorescence in situ hybridization analysis of t(14;18)-positive follicular lymphoma and correlation with gene expression data and clinical outcome.
Br J Haematol. 2003 Sep;122(5):745-59.
dup Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation.
Hum Genet. 1980;54(3):309-13.
dup Segregation of a familial balanced (12;10) insertion resulting in Dup(10)(q21.2q22.1) and Del(10)(q21.2q22.1) in first cousins.
Am J Med Genet. 1997 Mar 17;69(2):188-93.
dup Duplication of chromosome region 8p23.1-->p23.3: a benign variant?
Am J Med Genet. 2000 Mar 6;91(1):18-21.
dup Amplification of AML1 on a duplicated chromosome 21 in acute lymphoblastic leukemia: a study of 20 cases.
Leukemia. 2003 Mar;17(3):547-53.
dup Molecular cytogenetic analysis of genomic instability at the 1q12-22 chromosomal site in B-cell non-Hodgkin lymphoma.
Genes Chromosomes Cancer. 2002 Dec;35(4):318-28.
dup Lipid anomaly in a child with partial duplication 3p.
Eur Rev Med Pharmacol Sci. 1998 May-Aug;2(3-4):127-9.
dup Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies.
Am J Med Genet. 1993 Apr 15;46(2):159-64.
dup De novo 1q32q44 duplication and distal 1q trisomy syndrome.
Am J Med Genet. 2003 Jul 15;120A(2):229-33.
dup Erratum in: Cancer Genet Cytogenet 2001 Nov;131(1):94-5.
Cancer Genet Cytogenet. 2001 Jun;127(2):143-7.
dup Chromosomal alterations associated with evolution from myelodysplastic syndrome to acute myeloid leukemia.
Leuk Res. 2000 Oct;24(10):839-48.
dup Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.
Am J Med Genet. 1999 Sep 3;86(1):44-50.
dup Chromosomes in the Cornelia de Lange syndrome.
Hum Genet. 1981;59(4):271-6.
dup Partial trisomy of chromosome 6q: an interstitial duplication of the long arm.
Am J Med Genet. 1998 Nov 2;80(2):133-5.
dup Secondary chromosomal abnormalities in acute leukemias.
Leukemia. 1994 Jun;8(6):953-62.
dup Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications.
Am J Med Genet. 2000 Oct 2;94(4):306-10.
dup Correlation of cytogenetic, molecular cytogenetic, and clinical findings in 59 patients with ANLL or MDS and abnormalities of the short arm of chromosome 12.
Br J Haematol. 1998 Mar;100(3):521-33.
dup [Study on karyotype of 306 cases of myelodysplastic syndrome]
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2004 Aug;12(4):455-9.
dup Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).
J Med Genet. 1998 Jul;35(7):604-8.
dup Duplication of 1q in a child with down syndrome and myelodysplastic syndrome.
Cancer Genet Cytogenet. 2000 May;119(1):74-6.
dup Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.
Am J Med Genet. 1998 Sep 1;79(2):82-9.
dup Consistent chromosomal aberration in cell lines transformed with Marek's disease herpesvirus: evidence of genomic DNA amplification.
Int J Cancer. 1993 Jun 19;54(4):685-92.
dup A novel Japanese Burkitt's lymphoma cell line, P32/Ishida, with a new variant chromosomal translocation (2;14).
Gann. 1983 Dec;74(6):878-86.
dup Small supernumerary marker chromosomes (sSMC) in humans.
Cytogenet Genome Res. 2004;107(1-2):55-67.
dup Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat.
Prenat Diagn. 2000 Dec;20(12):947-9.
dup dup(12)(q13----qter) in two t(14;18)-negative follicular B-non-Hodgkin's lymphomas.
Genes Chromosomes Cancer. 1992 Jun;4(4):302-8.
dup Chromosome fragility in Bloom's syndrome cell line GM 1492.
Cancer Genet Cytogenet. 1984 Jul;12(3):267-74.
dup Inv dup(15): contribution to the clinical definition of phenotype.
Clin Genet. 1994 Sep;46(3):233-7.
dup Possible intrachromosomal duplication in a case of trisomy 9p.
Hum Genet. 1976 Oct 28;34(2):217-21.
dup Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event.
Am J Med Genet. 2001 Jul 22;102(1):86-94.
dup Dup(4p)del(9p) in a familial mental retardation syndrome. Resemblance to de Lange syndrome detected by high-resolution banding.
Am J Dis Child. 1985 Jan;139(1):81-4.
dup The clinical usefulness of chromosome analysis by flow cytometry.
Semin Diagn Pathol. 1989 Feb;6(1):91-107.
dup Duplication of chromosome 2 in association with ventriculomegaly - a case report.
Prenat Diagn. 2001 Dec;21(13):1169-70.
dup [Molecular cytogenetic analysis of -7/7q- abnormalities in patients with myeloid malignancies]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Dec;20(6):471-6.
dup Is a duplication of 14q32 a new recurrent chromosomal alteration in B-cell non-Hodgkin lymphoma?
Cancer Genet Cytogenet. 1999 Aug;113(1):19-24.
dup Cytogenetic analysis of pancreatic carcinomas: intratumor heterogeneity and nonrandom pattern of chromosome aberrations.
Genes Chromosomes Cancer. 1998 Oct;23(2):81-99.
dup FISH identifies different types of duplications with 12q13-15 as the commonly involved segment in B-cell lymphoproliferative malignancies characterized by partial trisomy 12.
Genes Chromosomes Cancer. 1997 Oct;20(2):155-66.
dup Familial partial monosomy 5p and trisomy 5q; three cases due to paternal pericentric inversion 5 (p151q333).
Clin Genet. 1984 Sep;26(3):209-15.
dup FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients.
Am J Med Genet. 1997 Jan 10;68(1):99-104.
dup Prenatal diagnosis of partial monosomy 3p and partial trisomy 2p in a fetus associated with shortening of the long bones and a single umbilical artery.
Prenat Diagn. 1996 Mar;16(3):270-5.
dup Prenatal diagnosis of a partial trisomy 19q.
Prenat Diagn. 2000 Aug;20(8):663-5.
dup Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome.
Am J Med Genet. 1989 May;33(1):66-77.
dup Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation.
Am J Med Genet. 1996 Jan 11;61(2):182-7.
dup Inv dup(22), del(22)(q11) and r(22) in the father of a child with DiGeorge syndrome.
Eur J Hum Genet. 2000 Oct;8(10):801-4.
dup Significance of abnormalities of chromosomes 5 and 8 in chondroblastoma.
Clin Orthop. 1998 Apr;(349):189-93.
dup Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
J Med Genet. 2004 Feb;41(2):113-9.
dup Central precocious puberty and abnormal chromosomal patterns.
Endocr Pathol. 2000 Feb;11(1):69-76.
dup Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.
Am J Hum Genet. 1998 Apr;62(4):925-36.
dup Duplication 15q in a patient with t(8;21) acute myeloblastic leukemia (M2).
Cancer Genet Cytogenet. 2002 Mar;133(2):148-51.
dup Cytogenetic studies on rat thymic lymphomas induced by N-propyl-N-nitrosourea.
Leuk Res. 1988;12(7):607-10.
dup Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36.
Am J Med Genet. 1991 Aug 1;40(2):201-5.
dup Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
Am J Med Genet. 2002 Jul 15;110(4):353-8.
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