Two sibs with partial trisomy 2q.
作者信息
Barnicoat A J, Abusaad I, Mackie C M, Robards M F
机构信息
Department of Medical and Molecular Genetics, United Medical and Dental School, Guy's Hospital, London, United Kingdom.
出版信息
Am J Med Genet. 1997 May 16;70(2):166-70.
PMID:9128937
Abstract
We report on two sibs with facial anomalies and developmental delay. Partial trisomy 2q was detected only after parental chromosome studies showed the father to carry a balanced interchromosomal insertion of 2 (q24.3-q32.1) into 5q.
摘要
Zotero 插件