CLINICAL AND CYTOGENETIC FINDINGS IN 7 CASES OF INVERTED DUPLICATION OF 8P WITH EVIDENCE OF A TELOMERIC DELETION USING FLUORESCENCE IN-SITU HYBRIDIZATION

被引：59

作者：

GUO, WJ ^{[1
]}

CALLIFDALEY, F ^{[1
]}

ZAPATA, MC ^{[1
]}

MILLER, ME ^{[1
]}

机构：

[1] CHILDRENS MED CTR,DEPT MED GENET,DAYTON,OH 45404

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 58卷 / 03期

关键词：

CHROMOSOME; 8; CHROMOSOME ABNORMALITY; FLUORESCENCE IN SITU HYBRIDIZATION (FISH); INVERTED DUPLICATION 8P; TELOMERIC DELETION;

D O I：

10.1002/ajmg.1320580307

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on the clinical and cytogenetic findings in 7 cases of inverted duplication of region 8p11.2-p23. The phenotype of inv dup (8p) compiled from this series and the literature (N = 29) consists of severe mental retardation (100%), minor facial alterations (97%), agenesis of the corpus callosum (80%), hypotonia (66%), orthopedic abnormalities (58%), scoliosis/kyphosis (40%), and congenital heart defect (26%). A telomeric deletion of region 8p23.3-pter was confirmed in 3 of our cases studied using fluorescent in situ hybridization with a telomeric probe for 8p. Thus, these karyotypes are inv dup del(8) (qter-->p23.1::p23.1-->p11.2:). Our findings suggest that most cases of inv dup(8p) probably have a telomeric deletion. (C) 1995 Wiley Liss, Inc.

引用

页码：230 / 236

页数：7

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