WAGR SYNDROME AND MULTIPLE EXOSTOSES IN A PATIENT WITH DEL(LL)(P11.2P14.2)

被引：27

作者：

MCGAUGHRAN, JM ^{[1
]}

WARD, HB ^{[1
]}

EVANS, DGR ^{[1
]}

机构：

[1] ST MARYS HOSP, DEPT CYTOGENET, MANCHESTER M13 0JH, LANCS, ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 10期

关键词：

D O I：

10.1136/jmg.32.10.823

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The WAGR syndrome (Wilms' tumour, aniridia, genital anomalies, and mental retardation) is well documented to be associated with a deletion of 11p13. We present a patient with a del(11)(p11.2p14.2) who as well as all the features of WAGR syndrome has multiple exostoses. We suggest that this could be a possible locus for hereditary multiple exostoses.

引用

页码：823 / 824

页数：2

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