WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2)

J M McGaughran; H B Ward; D G Evans

doi:10.1136/jmg.32.10.823

WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2)

J Med Genet. 1995 Oct;32(10):823-4. doi: 10.1136/jmg.32.10.823.

Authors

J M McGaughran¹, H B Ward, D G Evans

Affiliation

¹ Department of Medical Genetics, St Mary's Hospital, Manchester, UK.

Abstract

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.

Publication types

Case Reports

MeSH terms

Adult
Chromosome Deletion*
Chromosomes, Human, Pair 11*
Exostoses, Multiple Hereditary / complications
Exostoses, Multiple Hereditary / genetics*
Humans
Male
WAGR Syndrome / complications
WAGR Syndrome / genetics*