DISTINCT PHENOTYPE IN MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-14

被引：57

作者：

HEALEY, S

POWELL, F

BATTERSBY, M

CHENEVIXTRENCH, G

MCGILL, J

机构：

[1] QUEENSLAND MED LABS,BRISBANE,QLD,AUSTRALIA

[2] ROYAL CHILDRENS HOSP,DEPT GENET,BRISBANE,QLD,AUSTRALIA

[3] UNIV QUEENSLAND,DEPT CHILD HLTH,BRISBANE,QLD,AUSTRALIA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 51卷 / 02期

关键词：

UNIPARENTAL DISOMY; ROBERTSONIAN TRANSLOCATION; IMPRINTING;

D O I：

10.1002/ajmg.1320510213

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on the occurrence of maternal uniparental disomy for chromosome 14 (mUPD14) in a 4-year-old girl with a de novo Robertsonian translocation, 45,XX,t (13q,14q). The child has arrested hydrocephalus, short stature, minor anomalies, small hands with hyperextensible joints, and mild to moderate developmental delay. Comparison of her phenotype with those of three previously described individuals show some common distinct traits which suggest a mUPD14 syndrome. (C) 1994 Wiley-Liss, Inc.

引用

页码：147 / 149

页数：3