新的染色体畸形综合征。2. 10号染色体短臂三体
New chromosomal dysmorphic syndromes. 2. Trisomy 10p.
作者信息
Stengel-Rutkowski S, Murken J D, Frankenberger R, Riechert M, Spiess H, Rodewald A, Stene J
出版信息
Eur J Pediatr. 1977 Oct 12;126(3):109-25. doi: 10.1007/BF00442193.
PMID:913435
Abstract
This is the report of a family in which a balanced translocation in the mother t(5;10)(p15;p13) led to an unbalanced chromosomal constitution in two children. It was identified by G-banding analysis as trisomy of the distal portion of the short arm of chromosome 10 (p13 leads to pter). Comparison with 15 previous reports of trisomy 10p confirms the existence of a characteristic dysmorphic syndrome.
摘要
本文报告了一个家庭，母亲存在平衡易位t(5;10)(p15;p13)，导致两个孩子出现染色体组成不平衡的情况。通过G显带分析确定为10号染色体短臂远端部分三体（从p13到pter）。与之前15篇关于10p三体的报告进行比较，证实了一种特征性畸形综合征的存在。
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