DELETION OF CHROMOSOME 15PTER-]Q11.2 DUE TO T(Y-15) IN A BOY WITH PRADER-WILLI SYNDROME

被引：7

作者：

QUMSIYEH, MB ^{[1
]}

DALTON, JD ^{[1
]}

GORDON, PL ^{[1
]}

WILROY, RS ^{[1
]}

THARAPEL, AT ^{[1
]}

机构：

[1] UNIV TENNESSEE CTR HLTH SCI,DEPT PEDIAT,DIV GENET,711 JEFFERSON AVE,MEMPHIS,TN 38163

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 01期

关键词：

PRADER-WILLI SYNDROME; CHROMOSOME; 15; FLUORESCENT INSITU HYBRIDIZATION;

D O I：

10.1002/ajmg.1320420122

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Chromosome analysis of lymphocytes from a patient with the clinical presentation of Prader-Willi syndrome showed the presence of 45 chromosomes, including a der(Y) resulting from an unbalanced t(Y;15)(q12;q11.2). In situ hybridization using DYZ3 and DYZ2 showed positive signals at the paracentromeric region on the short arm and at the heterochromatic region of the long arm of the Y chromosome, respectively. The Prader-Willi syndrome in this patient is caused by the deficiency of a very small region involving 15cen --> q11.2.

引用

页码：109 / 111

页数：3

共 16 条

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