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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Balasubramanian M, Barber J C K, Collinson M N, Huang S, Maloney V K, Bunyan D, Foulds N.: Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy. AJMG part A: DOI=10.1002/ajmg.a.32463, 2009. [PubMed: 19248177]Patient was 6 months old.46,XX,inv dup(1)(pter->q44::q44->q32.1::q44->qter)dn. arr cgh inv dup(1)(q32.1q44)(B35:CHR1:203,740,433->245,328,092-),ish inv dup(1)(CEB108+,RP11-100E13+,Rp11-541M23+,RP11-160H23+?,RP11-541M23+,RP11-100E13+,RP11-568G11+).Aberration: IP,DUChromosomal Aneuploidy: 1q+
- Balasubramanian M, Barber J C K, Collinson M N, Huang S, Maloney V K, Bunyan D, Foulds N.: Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy. AJMG Part A: DOI=10.1002/ajmg.a.32463, 2009. [PubMed: 19248177]46,XX,inv dup(1)(pter->q44::q44->qter)dn.arr cgh inv dup(1)(q32.1q44)(B35:CHR1:203,740,433->245,328,092-).ish inv dup(1)(CEB108+,RP-568G11+,RP11-100E13+,RP11-541M23+,RP1-160H23?,RP11-541M23+,RP11-100E13+,RP11-568G11+).The patient was 6 months old with MCA.Aberration: DuplicationChromosomal Aneuploidy: 1q+
- DuPont B R, Huff R W, Ridgway L E, Stratton R F, Moore C M: Prenatal diagnosis of partial trisomy 1q using fluorescent in situ hybridization. AJMG 50:21-27, 1994. [PubMed: 8160748]46,XY,-15,+der(15)t(1;15)(q32.1;q26.3).Father was not available for examination and mother had a normal karyotype. PUBS was sampled because of abnormalities seen on ultrasound at 34 weeks of pregnancy. The infant died several weeks after delivery by vacuum extraction at 37 weeks.The extra chromosome material was identified using spectrum orange (BRL/Gibco) paint.Aberration: Simple translocationChromosomal Aneuploidy: 1q+Index Terms: FISHNegative band
- Frizell E R, Sutphen R, Diamond F B Jr, Sherwood M, Overhauser J.: t(1;18)(q32.1;q22.1) associated with genitourinary malformations. Clin. Genet. 54:330-333, 1998. [PubMed: 9831345]46,XY,t(1;18)(q32.1;q21.3)The authors suggest that a gene responsible for genitourinary development may be at or near the chromosome 18 breakpoint.Aberration: Reciprocal translocationIndex Terms: Genitourinary development
- Herva R, Korhonen S, Haapala K, Timonen E: Trisomy 10p produced by recombination involving complex paternal translocation between chromosomes 1 and 10. Clin. Genet. 24:50-53, 1983. [PubMed: 6616946]46,XY,t(1;10)(q32;p1q26).&"46,XX, der(10)t(1;10)(q32;p1q26)pat."&The interpretation of the abnormal chromosomes does not match with the diagram provided in the report.Aberration: Direct insertion between two chromosomesNegative band
- van Haelst M M, Eussen H J F M M, Visscher F, de Ruijter J L M, Drop S L S, Lindhout D, Wouters C H, Govaerts L C P.: Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome. J. Med. Genet. 39:582-585, 2002. [PMC free article: PMC1735207] [PubMed: 12161598]Proband was 28 years old, and was being re-evaluated because of apparently syndromal retardation, aggressive and autistiform behavior.46,XY,add(1)(q44).,46,XY,inv ins(1)(q42;q32.1q42.1).Aberration: II,DUMIM#: 180860Chromosomal Aneuploidy: 1q+Index Terms: Silver-Russell phenotype
- Youings S, Ellis K, Ennis S, Barber J, Jacobs P.: A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. AJMG DOI=10.1002/ajmg.a.20553; 126A:46-60 , 2003 and 2004. [PubMed: 15039973]Lab ID DD0106392:46,XY,t(1;11)(q32.1;q23.3).Case ascertainment is listed as miscellaneous.Lab ID DD9000276:46,XX,t(1;6)(q32.1;p22.2)pat.Case ascertained because of reproductive difficulties.Aberration: Reciprocal translocation
- 01q321 - Chromosomal Variation in Man01q321 - Chromosomal Variation in Man
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