简要临床报告：一名患有7号染色体长臂末端缺失[46,XX,del(7)(pter导致q32:)]的新生儿女孩的鼻眼发育不全-前脑无裂畸形。
Brief clinical report: cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter leads to q32:)].
作者信息
Schwartz S, Meekins J, Panny S R, Sun C C, Cohen M M
出版信息
Am J Med Genet. 1983 May;15(1):141-4. doi: 10.1002/ajmg.1320150119.
PMID:6859113
Abstract
Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,del(7)(pter leads to q32:). This infant had cebocephaly with holoprosencephaly. These clinical findings are atypical for the 7q - syndrome, in which patients usually have growth and mental retardation with few facial abnormalities.
摘要
对一名出生一天的婴儿进行的细胞遗传学研究显示存在7号染色体长臂末端缺失：46,XX,del(7)(pter→q32)。该婴儿患有头面正中裂并全前脑畸形。这些临床发现对于7q-综合征而言并不典型，在7q-综合征中，患者通常有生长发育和智力迟缓，面部异常较少。
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