18号染色体间质性缺失[del(18)(q11.2q12.2或q12.2q21.1)]

Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1].

作者信息

Surh L C, Ledbetter D H, Greenberg F

机构信息

Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.

出版信息

Am J Med Genet. 1991 Oct 1;41(1):15-7. doi: 10.1002/ajmg.1320410105.

DOI:10.1002/ajmg.1320410105

PMID:1719812

Abstract

A 27-month old boy with mild developmental delay, growth delay, strabismus, midface hypoplasia, relative telecanthus, downslanting palpebral fissures, epicanthal folds, dental hypoplasia, and cardiac defects was found to have an interstitial deletion of chromosome 18 involving band q12.1 or q12.3

摘要

一名27个月大的男孩，有轻度发育迟缓、生长发育迟缓、斜视、面中部发育不全、相对内眦间距增宽、睑裂向下倾斜、内眦赘皮、牙齿发育不全和心脏缺陷，被发现存在18号染色体涉及q12.1或q12.3带的间质性缺失。