一名患有多种先天性异常和智力障碍男性的环状染色体7。
Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation.
作者信息
Koiffmann C P, Diament A, de Souza D H, Wajntal A
机构信息
Department of Biology, University of São Paulo, Brazil.
出版信息
J Med Genet. 1990 Jul;27(7):462-4. doi: 10.1136/jmg.27.7.462.
Abstract
A 39 year old male with multiple dysmorphic features was found to have an unstable ring chromosome 7. Clinical findings are presented and compared with the other five reported cases of ring chromosome 7. The main characteristics found in patients with this chromosome constitution are prenatal onset growth deficiency, bone anomalies, pigmentary or vascular skin changes, and ocular and genital anomalies.
摘要
一名39岁有多种畸形特征的男性被发现有一条不稳定的环状7号染色体。本文展示了临床发现，并与其他五例已报道的环状7号染色体病例进行了比较。具有这种染色体构成的患者的主要特征是产前生长发育迟缓、骨骼异常、皮肤色素沉着或血管改变以及眼部和生殖器异常。
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