ROUTINE DIAGNOSIS OF DIGEORGE SYNDROME BY FLUORESCENT INSITU HYBRIDIZATION

被引：55

作者：

DESMAZE, C

SCAMBLER, P

PRIEUR, M

HALFORD, S

SIDI, D

LEDEIST, F

AURIAS, A

机构：

[1] INST CURIE, CNRS, URA 620, 26 RUE ULM, F-75231 PARIS 05, FRANCE

[2] ST MARYS HOSP, SCH MED, DEPT BIOCHEM & MOLEC GENET, LONDON W2 1PG, ENGLAND

[3] HOP NECKER ENFANTS MALAD, SERV CARDIOL PEDIAT, F-75743 PARIS 15, FRANCE

[4] HOP NECKER ENFANTS MALAD, INSERM, U132, F-75743 PARIS 15, FRANCE

来源：

HUMAN GENETICS | 1993年 / 90卷 / 06期

关键词：

D O I：

10.1007/BF00202489

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In a series of ten patients affected by DiGeorge syndrome, we screened, by high resolution banding and fluorescent in situ hybridization of a cosmid probe, for microdeletions associated with this syndrome. In the ten patients, a microdeletion was demonstrated by in situ hybridization, but suspected only in two patients by high resolution banding.

引用

页码：663 / 665

页数：3

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