15号环状染色体综合征
Ring chromosome 15 syndrome.
作者信息
Fryns J P, Timmermans J, Hondt F D, François B, Emmery L, van den Berghe H
出版信息
Hum Genet. 1979 Sep 2;51(1):43-8. doi: 10.1007/BF00278290.
PMID:500090
Abstract
Two new cases of ring chromosome 15 are reported. A review of the nine cases described in the literature shows that ring chromosomes 15 are associated with a rather uniform phenotype characterized by slight to moderate mental retardation, marked pre- and postnatal growth failure, triangular face, and short hands and feet.
摘要
报告了两例新的15号环状染色体病例。对文献中描述的9例病例的回顾表明，15号环状染色体与一种相当一致的表型相关，其特征为轻度至中度智力发育迟缓、明显的出生前和出生后生长发育迟缓、三角形脸以及短手和短脚。
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