CONFIRMATION OF ASSIGNMENT OF A LOCUS FOR RUBINSTEIN-TAYBI SYNDROME GENE TO 16P13.3

被引：44

作者：

LACOMBE, O ^{[1
]}

SAURA, R ^{[1
]}

TAINE, L ^{[1
]}

BATTIN, J ^{[1
]}

机构：

[1] MATERN PELLEGRIN,BORDEAUX,FRANCE

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 01期

关键词：

RUBINSTEIN-TAYBI SYNDROME; CHROMOSOME ABNORMALITY; PERICENTRIC INVERSION; GENE MAPPING;

D O I：

10.1002/ajmg.1320440134

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A two month-old girl was diagnosed as a case of Rubinstein-Taybi syndrome (RTS) on typical facial dysmorphism, broad and duplicated distal phalanges of thumbs and halluces, growth retardation and psychomotor development delay. Chromosome analysis demonstrated a de novo pericentric inversion of one chromosome 16:46,XX,inv(16)(p13.3;q13). This association confirms assignment of a locus for RTS gene to 16p13.3, as two others translocations involving the same breakpoint have already been reported.

引用

页码：126 / 128

页数：3

共 10 条

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