Deletion of chromosome 3 and a 3;20 reciprocal translocation demonstrated by chromosome painting.
作者信息
Crispino B, Cardoso H, Mimbacas A, Méndez V
机构信息
División Citogenética, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay.
出版信息
Am J Med Genet. 1995 Jan 2;55(1):27-9. doi: 10.1002/ajmg.1320550109.
PMID:7702091
Abstract
The combined use of high resolution banding and chromosome painting techniques allowed us to identify a reciprocal translocation involving chromosomes 3 and 20 and simultaneous interstitial deletion of chromosome 3 in a patient with several minor anomalies of the face and hands. His karyotype is described as 46,XY,t(3;20) (p14.2;p12.2),del(3)(p11-p14.1).
摘要
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