一名患有肺动脉闭锁、室间隔缺损、小头畸形、发育迟缓及面部畸形的婴儿存在6q22.1至q23.2区域24兆碱基的缺失。
24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.
作者信息
Chen C-P, Wang T-H, Lin S-P, Chern S-R, Chen M-R, Lee C-C, Chen Y-J, Wang W
机构信息
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan.
出版信息
Eur J Med Genet. 2006 Nov-Dec;49(6):516-9. doi: 10.1016/j.ejmg.2006.04.002. Epub 2006 May 15.
PMID:16769261
Abstract
24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.
摘要
一名患有肺动脉闭锁、室间隔缺损、小头畸形、发育迟缓及面部畸形的婴儿存在6号染色体长臂2区22.1带至23.2带24兆碱基的缺失。
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