一名20岁女性的22号染色体三体。
Trisomy 22 in a 20-year-old female.
作者信息
Welter D A, Scharff L, Teal N M, Thevaos T G
出版信息
Hum Genet. 1978 Sep 19;43(3):347-51. doi: 10.1007/BF00278845.
PMID:700709
Abstract
Trisomy 22 was confirmed in a 20-year-old ambulatory female. Growth and mental retardation plus various dysmorphic features of this syndrome are described and compared with a previous survey. Several interesting unreported findings such as sexual immaturity and gait are discussed in regard to the 22 trisomy syndrome.
摘要
一名20岁的门诊女性被确诊为22三体综合征。本文描述了该综合征的生长发育和智力迟缓以及各种畸形特征，并与之前的一项调查进行了比较。针对22三体综合征，讨论了一些有趣的未报告发现，如性不成熟和步态。
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