13号环状染色体综合征
D13 ring chromosome syndrome.
作者信息
Mccandless A, Walker S
出版信息
Arch Dis Child. 1976 Jun;51(6):449-53. doi: 10.1136/adc.51.6.449.
Abstract
A case of ring D13 chromosome, confirmed by trypsin banding, is described. Reviewing 21 cases from published reports, the most common features of this syndrome are microcephaly and associated mental retardation, poor uterine growth, deformed auricles, hypertelorism, epicanthus, broad nasal bridge, and genital defects in males.
摘要
本文描述了一例经胰蛋白酶显带证实的D13环状染色体病例。回顾已发表报告中的21例病例，该综合征最常见的特征是小头畸形及相关智力发育迟缓、子宫发育不良、耳廓畸形、眼距过宽、内眦赘皮、鼻梁宽和男性生殖器缺陷。
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