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WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2)
  1. J M McGaughran1,
  2. H B Ward2,
  3. D G R Evans1
  1. 1Department of Medical Genetics, St Mary's Hospital, Manchester M13 0JH, UK
  2. Department of Cytogenetics, St Mary's Hospital, Manchester M13 0JH, 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.

    https://doi.org/10.1136/jmg.32.10.823

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