与明显平衡的染色体易位g(9;17)(q34;q11)相关的先天性大体异常。
Gross congenital abnormality associated with an apparently balanced chromosomal translocation g(9;17)(q34;q11).
作者信息
Dockery H E, Neale H C, Fitzgerald P H
出版信息
J Med Genet. 1982 Oct;19(5):380-3. doi: 10.1136/jmg.19.5.380.
Abstract
Gross mental and physical abnormality is described in an adult female who had some features similar to those of Ehlers-Danlos syndrome. There was no family history of the disorder. The patient also carried a balanced chromosomal translocation t(9;17)(q34;q11).
摘要
一名成年女性被描述有严重的精神和身体异常，她具有一些与埃勒斯-当洛综合征相似的特征。该疾病无家族病史。患者还携带一种平衡的染色体易位t(9;17)(q34;q11)。
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