3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome

Eur J Med Genet. 2011 May-Jun;54(3):225-30. doi: 10.1016/j.ejmg.2010.12.012. Epub 2011 Jan 4.

Abstract

In a male patient with developmental delay, autistic behaviour, obesity, lymphedema, hypertension, macrocephaly, and facial features of chromosome 5p duplication (trisomy 5p) a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb) was identified. This observation contributes to the characterization and dissection of the 5p13 duplication syndrome. The possible role of increased NIPBL gene dosage is discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Child
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / pathology
  • Chromosomes, Human, Pair 5 / genetics*
  • Developmental Disabilities / pathology
  • Follow-Up Studies
  • Gene Duplication
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Lymphedema / pathology
  • Male
  • Megalencephaly / pathology
  • Obesity / pathology
  • Syndrome
  • Young Adult