一名5岁以上女性的13三体综合征。
Trisomy 13 in a female over 5 years of age.
作者信息
Mankinen C B, Sears J W
出版信息
J Med Genet. 1976 Apr;13(2):157-61. doi: 10.1136/jmg.13.2.157.
A case of simple trisomy 13, confirmed by G-banded chromosome analysis, is reported in a Caucasian female over 5 years of age. There is no cytogenetic evidence available for mosaicism in the propositus or her parents. The patient's salient clinical features are: profound mental and motor retardation; microcephaly with trigonocephaly; ear malformations; small, sunken eyes; unusual eyebrows; cleft lip and palate; bulbar nose; coloboma iris; polydactyly; unusual dermatoglyphic patterns; large adductor thumbs; enlarged great toes; multiple capillary haemangiomas; club feet; inguinal and umbilical hernias; hyperconvexed fingernails; and seizure disorder.
报告了一例经G显带染色体分析确诊的单纯13三体病例，患者为一名5岁以上的白种女性。先证者及其父母均没有嵌合体的细胞遗传学证据。患者的显著临床特征为：严重智力和运动发育迟缓；小头畸形伴三角头畸形；耳部畸形；小而凹陷的眼睛；异常眉毛；唇腭裂；球根状鼻；虹膜缺损；多指畸形；异常皮纹模式；大拇内收肌增大；大脚趾增大；多发性毛细血管瘤；马蹄内翻足；腹股沟疝和脐疝；指甲过度凸出；以及癫痫症。
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