Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion.
作者信息
Montgomery T L, Wyllie J, Oley C
机构信息
Department of Clinical Genetics, Northern Genetics Service, Newcastle Upon Tyne, UK.
出版信息
Clin Dysmorphol. 2000 Oct;9(4):235-9. doi: 10.1097/00019605-200009040-00001.
Abstract
An infant with ectrodactyly, glaucoma, cleft palate, congenital heart defect and genital anomalies associated with a 7(q21.2q31.2) deletion is presented. Glaucoma and ectrodactyly in association with a 7q deletion has not been previously reported. We recommend that early ophthalmological assessment is required in infants with such deletions.
摘要
Zotero 插件