猫叫综合征合并9号染色体短臂部分三体性
Cri du chat-syndrome in combination with partial trisomy 9 p.
作者信息
Sigmund J, Frisch H, Heinz-Erian P, Rhomberg K, Wegner R D
出版信息
Padiatr Padol. 1986;21(1):61-7.
PMID:3960564
Abstract
A partial monosomy 5p leading to the Cri du chat-Syndrome combined with a partial trisomy 9p was observed in a mentally defective boy with typical clinical features for both syndromes. This chromosomal aberration is inherited from a t [5; 9] (p. 13.3; 13.1) translocation carrier father. Further family investigations showed many balanced translocation carriers through several generations.
摘要
在一名智力缺陷男孩中观察到导致猫叫综合征的5p部分单体性与9p部分三体性并存，该男孩具有这两种综合征的典型临床特征。这种染色体畸变是从一名携带t[5; 9](p. 13.3; 13.1)易位的父亲遗传而来的。进一步的家族调查显示，几代人中存在许多平衡易位携带者。
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