PALLISTER-KILLIAN SYNDROME - CHARACTERIZATION OF THE ISOCHROMOSOME-12P BY FLUORESCENT INSITU HYBRIDIZATION

被引：47

作者：

SPELEMAN, F

LEROY, JG

VANROY, N

DEPAEPE, A

SUIJKERBUIJK, R

BRUNNER, H

LOOIJENGA, L

VERSCHRAEGENSPAE, MR

ORYE, E

机构：

[1] DR DANIEL DEN HOED CANC CTR,EXPTL PATHOONCOL LAB,ROTTERDAM,NETHERLANDS

[2] CATHOLIC UNIV NIJMEGEN,DEPT HUMAN GENET,NIJMEGEN,NETHERLANDS

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 41卷 / 03期

关键词：

TETRASOMY-12P; CHROMOSOME-12; BIOTIN; DIGOXIGENIN; FIBROBLAST CULTURES;

D O I：

10.1002/ajmg.1320410321

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister-Killian syndrome and one deceased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12-specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister-Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different passages in fibroblast cultures of two patients was monitored.

引用

页码：381 / 387

页数：7