Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature.
Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature.
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前脑无裂畸形：与 2p 间质性缺失相关以及细胞遗传学文献回顾。
DOI：
10.1002/ajmg.1320300409
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发表时间：
1988
期刊：
影响因子：
--
通讯作者：
E. Zackai
中科院分区：
文献类型：
--
作者：
Maximilian Münke;Maximilian Münke;Beverly S. Emanuel;E. Zackai
染色体分析与高分辨率显带显示一个小的从头间质缺失2号染色体（p21-p22.2）的婴儿无前脑。这是第一次这样的观察。众所周知，与13号染色体异常（最常见的是13三体，但也有dup（13 q）和del（13 q））和18号染色体异常（最常见的是del（18 p），但也有18三体）有关。文献回顾也显示3 p重复和7 q缺失是前脑无裂畸形缺陷的原因。
Chromosome analysis with high-resolution banding showed a small de novo interstitial deletion of chromosome 2(p21----p22.2) in an infant with holoprosencephaly. This is the first such observation. There is a well-known association with abnormalities of chromosome 13 (most commonly trisomy 13, but also dup(13q) and del(13q) and chromosome 18 (most often del(18p), but also trisomy 18). Review of the literature also showed duplications of 3p and deletions of 7q to be causes of the holoprosencephaly defect.