Mosaicism for deletion 1p36.33 in a Patient with obesity and hyperphagia

Erica A. Eugster, Susan A. Berry, Betsy Hirsch

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30 Scopus citations

Abstract

We report on a 4-year-old girl with obesity and hyperphagia whose peripheral blood cytogenetic analysis showed mosaicism for a deletion of band 1p36.33. Terminal 1p deletions are rarely reported and this patient represents the first identified case of mosaicism. Given the subtlety of the cytogenetic abnormality and the possibility of mosaicism, the incidence of such deletions has probably been underestimated. While a characteristic phenotype associated with this karyotypic abnormality was described recently, the present report highlights the additional clinical findings of obesity and hyperphagia and the overlap of manifestations with Prader-Willi syndrome.

Original languageEnglish (US)
Pages (from-to)409-412
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume70
Issue number4
DOIs
StatePublished - Jun 27 1997

Keywords

  • 1p36.3 deletion
  • Hyperphagia
  • Mosaicism
  • Obesity
  • Prader-Willi syndrome

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