ANGELMAN SYNDROME WITH A CHROMOSOMAL INVERSION 15 INV(P11Q13) ACCOMPANIED BY A DELETION IN 15Q11Q13

被引：12

作者：

WEBB, T

CLAYTONSMITH, J

CHENG, XJ

KNOLL, JHM

LALANDE, M

PEMBREY, ME

MALCOLM, S

机构：

[1] INST CHILD HLTH,LONDON WC1N 1EH,ENGLAND

[2] CHILDRENS HOSP MED CTR,DIV GENET,BOSTON,MA 02115

来源：

JOURNAL OF MEDICAL GENETICS | 1992年 / 29卷 / 12期

关键词：

D O I：

10.1136/jmg.29.12.921

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A family is described in which an inversion of chromosome 15, 15 inv(p11q13), is segregating. All family members are healthy except the proband who is a 10 year old boy with Angelman syndrome. Although the chromosomal inversion has been passed from the grandfather to both his son and his daughter with no ill effect, passage from daughter to grandson has resulted in a deletion of chromosome 15 material which is presumed to be the cause of Angelman syndrome in this boy. The probabilities of an inversion of this type being instrumental in causing the syndrome are discussed.

引用

页码：921 / 924

页数：4

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