9p综合征
The 9p-syndrome.
作者信息
Funderburk S J, Sparkes R S, Klisak I
出版信息
J Med Genet. 1979 Feb;16(1):75-9. doi: 10.1136/jmg.16.1.75.
Abstract
A 13-year-old boy with 9p- (p22 leads to pter) is reported. He had many features in common with previous 9p- cases, as well as several distinctive features including polydactyly and precocious puberty. Cytogenetic studies revealed a de novo deletion distal to ban 9p22, which was the reported site of chromosome break in 9 of the 10 previous 9p- cases. Evaluation of the human GALT enzyme suggests that its locus is not on the deleted segment.
摘要
报告了一名患有9号染色体短臂缺失（p22至染色体末端）的13岁男孩。他与之前的9号染色体短臂缺失病例有许多共同特征，也有一些独特特征，包括多指畸形和性早熟。细胞遗传学研究显示，在9号染色体p22带远端存在一个新生缺失，这是之前10例9号染色体短臂缺失病例中9例报告的染色体断裂位点。对人类半乳糖-1-磷酸尿苷酰转移酶（GALT）的评估表明，其基因座不在缺失片段上。
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