近期发现的具有临床重要性的染色体缺陷。
Recently recognized chromosomal defects of clinical importance.
作者信息
Pembrey M, Baraitser M
出版信息
Postgrad Med J. 1986 Feb;62(724):131-42. doi: 10.1136/pgmj.62.724.131.
Abstract
We review those conditions which have recently been recognized to be associated with small, sometimes difficult to detect, chromosomal abnormalities. These include the Prader-Willi syndrome and X-linked mental retardation.
摘要
我们回顾了那些最近被认为与微小的、有时难以检测到的染色体异常相关的病症。这些病症包括普拉德-威利综合征和X连锁智力障碍。
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