伴有异常染色体易位的唐氏综合征：病例报告及文献复习
Down syndrome with unusual chromosome translocation: case report and review.
作者信息
Bruni L, Capolino R, Tozzi M C, Colloridi F, Smacchia M P
机构信息
Istituto di Pediatria, Universita La Sapienza di Roma, Italie.
出版信息
Ann Genet. 1996;39(4):240-2.
PMID:9037352
Abstract
We report a case of Down syndrome with unusual chromosome translocation. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11:q21), + der (5) t(5;21). The mother's karyotype was 46 XX, der (5) t(5,21) (q11:q21). The chromosome imbalance resulted from 3:1 meiotic segregation.
摘要
我们报告一例患有不寻常染色体易位的唐氏综合征病例。先证者是一名1岁男性，核型为47, XY, der (5) t(5;21) (q11:q21), + der (5) t(5;21)。母亲的核型为46 XX, der (5) t(5,21) (q11:q21)。染色体不平衡是由3:1减数分裂分离导致的。
Zotero 插件