RUBINSTEIN-TAYBI SYNDROME WITH DENOVO RECIPROCAL TRANSLOCATION T(2-16)(P13.3-P13.3)

被引：48

作者：

IMAIZUMI, K

KUROKI, Y

机构：

[1] Div. of Medical Genetics, Kanagawa Children's, Medical Center, Minami-ku, Yokohama

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 38卷 / 04期

关键词：

chromosome abnormality; reciprocal translocation; Rubinstein-Taybi syndrome;

D O I：

10.1002/ajmg.1320380430

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a girl with typical Rubinstein-Taybi syndrome with apparently balanced reciprocal translocation between chromosome 2 and 16. The patient has a condition characterized by mental retardation, typical facial manifestations, broad thumbs and first toes. Cytogenetic studies of the patient showed a reciprocal translocation without visible deletion, karyotype: 46,XX, t(2;16) (p13.3;p13.3). Her parents had normal chromosomes. These results suggest that the locus of the gene for the Rubinstein-Taybi syndrome may be situated at 2p13.3 or 16p13.3

引用

页码：636 / 639

页数：4

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