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Research Article
Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.
  1. C M Brewer,
  2. W W Lam,
  3. C Hayward,
  4. E Grace,
  5. E R Maher,
  6. D R FitzPatrick
  1. Human Genetics Unit, Western General Hospital, Edinburgh, UK.

    Abstract

    Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia). The association of a chromosome 18 deletion and BWS may be coincidental or may indicate the location of a trans activating regulator element for maintenance of IGF2 imprinting.

    https://doi.org/10.1136/jmg.35.2.162

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