家族性半隐匿性易位t(9;17)
Familial half cryptic translocation t(9;17).
作者信息
Köhler A, Hain J, Müller U
机构信息
Institut für Humangenetik, Justus-Liebig-Universität Giessen, Germany.
出版信息
J Med Genet. 1994 Sep;31(9):712-4. doi: 10.1136/jmg.31.9.712.
Abstract
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.
摘要
通过荧光原位杂交技术在一个大家庭中检测到一种半隐匿性易位t(9;17)(p24.2;p13.3)。染色体核型不平衡要么导致无脑回畸形和早期死亡，要么导致智力发育迟缓、小头畸形、高拱腭和椎骨畸形。在受影响个体中观察到的一些特征是涉及17p或9p的已知综合征的特征。
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