一名患有46,XX,i(18q)的新生女婴的前脑无裂畸形。
Holoprosencephaly in a newborn girl with 46,XX,i(18q).
作者信息
Spinner N B, Eunpu D L, Austria J R, Mamunes P
机构信息
Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, Pennsylvania 19141.
出版信息
Am J Med Genet. 1991 Apr 1;39(1):11-2. doi: 10.1002/ajmg.1320390104.
PMID:1867253
Abstract
We report on a newborn girl with holoprosencephaly, microcephaly, absent right radius, and other anomalies with an 46,XX,i(18q) chromosome constitution. This is the first report of an i(18q) in syndromal alobar holoprosencephaly.
摘要
我们报告了一名患有全前脑畸形、小头畸形、右侧桡骨缺如及其他异常的新生儿女孩，其染色体核型为46,XX,i(18q)。这是综合征性无脑叶全前脑畸形中i(18q)的首例报告。
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