RECOGNIZABLE BEHAVIORAL AND SOMATIC PHENOTYPE IN PATIENTS WITH PROXIMAL INTERSTITIAL-18Q DELETION - REPORT ON A NEW AFFECTED CHILD AND FOLLOW-UP ON THE ORIGINAL REPORTED FAMILIAL CASES

被引：16

作者：

CHUDLEY, AE

KOVNATS, S

RAY, M

机构：

[1] UNIV MONTREAL,CHILDRENS HOSP,DEPT PEDIAT & CHILD HLTH,MONTREAL H3C 3J7,QUEBEC,CANADA

[2] UNIV MONTREAL,CHILDRENS HOSP,DEPT HUMAN GENET,MONTREAL H3C 3J7,QUEBEC,CANADA

[3] ST BONIFACE GEN HOSP,WINNIPEG R2H 2A6,MANITOBA,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 03期

关键词：

CHROMOSOME ABNORMALITIES; 18Q DELETION; MENTAL RETARDATION;

D O I：

10.1002/ajmg.1320430307

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a moderately retarded boy with a chromosome 18 deletion involving the regions q11.2q12.2. His phenotype is similar to that of other reported cases of proximal interstitial deletions involving 18q. We also provide follow-up information on the first 4 cases of proximal interstitial deletion of 18q from a family with a complex chromosome rearrangement originally reported in 1974.

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收藏

页码：535 / 538

页数：4

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