与多种先天性畸形相关的环状染色体10
Ring chromosome 10 associated with multiple congenital malformations.
作者信息
Simoni G, Rossella F, Dalprà L, Visconti G, Piria-Schwarz C
出版信息
Hum Genet. 1979 Oct 1;51(2):117-21. doi: 10.1007/BF00287164.
PMID:511137
Abstract
A 46,XY,r(10) karyotype was found in lymphocytes and skin fibroblasts cultured from a 8-month-old male showing multiple malformations and severe mental retardation. A comparison of the clinical features observed in cases in which a 10 ring was identified by means of banding techniques has been also attempted.
摘要
在一名患有多种畸形和严重智力发育迟缓的8个月大男性培养的淋巴细胞和皮肤成纤维细胞中发现了46,XY,r(10)核型。我们还尝试比较了通过染色体显带技术鉴定出10号环状染色体的病例中所观察到的临床特征。
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