6号环状染色体：一种非特异性临床表现
[Ring 6-chromosome: a nonspecific clinical picture].
作者信息
Sele B, Joannard A, Jalbert P, Boucharlat J
出版信息
Ann Genet. 1977 Dec;20(4):232-6.
PMID:305748
Abstract
A new example of ring-6 chromosome is reported in a 5-year-old girl with psychomotor and growth retardation, microcephally, and microphtalmia. The breakpoints are considered to be distal on both arms of chromosome 6, in view of apparently normal transmission of HLA phenotypes.
摘要
本文报道了一名5岁女童，患有精神运动发育迟缓和生长迟缓、小头畸形和小眼症，其6号环状染色体是一个新病例。鉴于HLA表型的传递明显正常，断点被认为位于6号染色体两臂的远端。
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