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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- Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]Patient I.P. No. 11374 in this report.46,XY,t(5;10)(p152;q26).&"46,XY,t(5qter -> 5p152::10q26 -> 10qter;10pter -> 10q26::4p152 -> 4pter)."&"46,XX,der(5)t(5;10)(p152;q26)pat."Aberration: Reciprocal translocationPositive band
- Bernstein R, Bocian M E, Cain M J, Bengtsson U, Wasmuth J J: "Identification of a cryptic t(5;7) reciprocal translocation by fluorescent in situ hybridization." AJMG 46:77-82, 1993. [PubMed: 8494035]46,XX,t(5;7)(p15.2;p21).&"46,XY,-5,+der(5)t(5;7)(5qter -> 5p15.2::7p21 -> 7pter)mat."The infant had the characteristic phenotype of the "cri du chat" syndrome.The importance of incorporating FISH in a routine cytogenetics laboratory is discussed.Aberration: Reciprocal translocationChromosomal Aneuploidy: 5p-Index Terms: Cri-du-chat syndrome (Cat's cry syndrome)Positive band
- Church D M, Yang J, Bocian M, Shiang R, Wasmuth J J.: A high-resolution physical and transcript map of the Cri du Chat region of human chromosome 5p. Genom. res. 7:787-801, 1997. [PubMed: 9267803]46,XY,del(5)(p15.2->pter)de novoMCA were present and is being followed at 33 months.Aberration: Terminal deletionChromosomal Aneuploidy: 5p-No band
- Same entry as in 05p140,05p151 (Overhauser et al, 1986).
- Reddy K S, Smith D L, Ball C S.: Cri du chat and Turner syndrome features in a newborn girl with an unbalanced 45,X,psu dic(5;X)(p15.2;p22.1) karyotype: FISH and replication banding studies. Ann. Genet. 42:105-108, 1999. [PubMed: 10434125]45,X,psu dic(5;X)(p15.2;p22.1)de novoAberration: Dicentric chromosomeChromosomal Aneuploidy: 5p-
- Sinet P M, Couturier J, Dutrillaux B, Poissonnier M, Raoul O, Rethore M O, Allard D, Lejeune J, Jerome H: Trisomie 21 et superoxyde dismutase 1. Exp. Cell Res. 97:47-55, 1976. [PubMed: 1245197]Patient I.P. No. 11261 in this report.45,XX,-21,+der(5)t(5;21)(p152;q2105).Aberration: Simple translocationPositive band
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- 05p152 - Chromosomal Variation in Man05p152 - Chromosomal Variation in Man
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