伴有8号染色体长臂间质性缺失的朗格-吉迪恩综合征。
Langer-Giedion syndrome with interstitial 8q-deletion.
作者信息
Zabel B U, Baumann W A
出版信息
Am J Med Genet. 1982 Mar;11(3):353-8. doi: 10.1002/ajmg.1320110312.
PMID:7081298
Abstract
We describe a 12-year-old girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) who also had vertebral malformations. Chromosome analysis identified an interstitial del(8q): 46,XX,del(8)(pter leads to q22::q234 leads to qter) as a cause of this syndrome.
摘要
我们描述了一名患有朗格-吉迪恩综合征（II型毛发-鼻-指综合征）且伴有椎体畸形的12岁女孩。染色体分析确定，间质8号染色体缺失（46,XX,del(8)(pter→q22::q234→qter)）是该综合征的病因。
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