MILLER-DIEKER SYNDROME - DETECTION OF A CRYPTIC CHROMOSOME-TRANSLOCATION USING IN-SITU HYBRIDIZATION IN A FAMILY WITH MULTIPLE AFFECTED OFFSPRING

被引：22

作者：

ALVARADO, M

BASS, HN

CALDWELL, S

JAMEHDOR, M

MILLER, AA

JACOB, P

机构：

[1] KAISER PERMANENTE MED CTR, DEPT MED GENET, PANORAMA CITY, CA 91402 USA

[2] KAISER PERMANENTE MED CTR, DEPT OBSTET & GYNECOL, PANORAMA CITY, CA 91402 USA

[3] KAISER PERMANENTE MED CTR, DEPT PEDIAT, NEONATOL SERV, PANORAMA CITY, CA 91402 USA

[4] UNIV CALIF LOS ANGELES, SCH MED, DEPT PEDIAT, LOS ANGELES, CA USA

来源：

AMERICAN JOURNAL OF DISEASES OF CHILDREN | 1993年 / 147卷 / 12期

关键词：

D O I：

10.1001/archpedi.1993.02160360033012

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Objective.-To describe a,family in whom fluorescence in situ hybridization allowed for accurate diagnosis of Miller-Dieker syndrome in an at-risk pregnancy and determination of parental carrier status.

引用

页码：1291 / 1294

页数：4

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