Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism

Research output: Contribution to journalArticle

Abstract

Deletions of the short arm of chromosome 2 are exceedingly rare and only nine cases involving regions from 2p23 to 2pter have been reported to date. Most of these deletions had only been analysed by GTG banding. Here, we report an interstitial de novo deletion resulting in a microdeletion of 3.9 Mb involving 2p23.2-p23.3 segment, detected by SNP-array analysis, in a 5 year-old boy showing hypotonia, overweight, dysmorphic facial features and cryptorchidism. We compared the clinical features of the present case to previously described patients with deletions within this chromosomal region. Our case adds new information to the deletion of the distal part of chromosome 2p improving the knowledge on this rearrangement.

Original languageEnglish
Pages (from-to)62-65
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume56
Issue number1
DOIs
Publication statusPublished - Jan 2013

Keywords

  • Cryptorchidism
  • Deletion 2p23
  • DTNB
  • SNP array

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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