FISH ANALYSIS IN PRADER-WILLI AND ANGELMAN SYNDROME PATIENTS

被引：9
|
作者：
BETTIO, D
RIZZI, N
GIARDINO, D
GRUGNI, G
BRISCIOLI, V
SELICORNI, A
CARNEVALE, F
LARIZZA, L
机构：
[1] CTR AUXOL ITALIANO PIANCAVALLO,OSPED SAN GIUSEPPE,DIV AUXOL,PIANCAVALLO,ITALY
[2] UNIV MILAN,CLIN PEDIAT DE MARCHI,MILAN,ITALY
[3] OSPED PEDIAT REG GIOVANNI XXIII,BARI,ITALY
[4] UNIV MILAN,DIPARTIMENTO BIOL & GENET SCI MED,MILAN,ITALY
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 56卷 / 02期
关键词：
CHROMOSOME; 15; ANGELMAN SYNDROME; PRADER-WILLI SYNDROME; FISH ANALYSIS;
D O I：
10.1002/ajmg.1320560222
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GrABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion. (C) 1995 Wiley-Liss, Inc.
引用
收藏
页码：224 / 228
页数：5
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