FAMILIAL HALF CRYPTIC TRANSLOCATION T(917)

被引：15

作者：

KOHLER, A

HAIN, J

MULLER, U

机构：

[1] Institut für Humangenetik, Justus-Liebig-Univ. Giessen, D35392, Giessen

来源：

JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 09期

关键词：

D O I：

10.1136/jmg.31.9.712

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A half cryptic translocation t(9;17) (p24.2; p13.3) was detected in a large family by fluorescence in situ hybridisation. Unbalanced karyotypes resulted either in lissencephaly and early death or in mental retardation, microcephaly, high arched palate, and deformities of the vertebrae. Some of the features observed in affected persons are characteristic of known syndromes involving either 17p or 9p.

引用

页码：712 / 714

页数：3

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