6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development

Eur J Med Genet. 2008 Nov-Dec;51(6):666-71. doi: 10.1016/j.ejmg.2008.07.009. Epub 2008 Aug 12.

Abstract

We report on a healthy man with high normal intelligence, minor dysmorphic features and infertility due to hypogonadism and azoospermia. Cytogenetic analysis showed a 6.7Mb duplication in chromosome band 11q24.2q25, which could be confirmed with FISH and molecular karyotyping using an Affymetrix GeneChip Human Mapping 250K Nsp SNP array.

Publication types

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

MeSH terms

  • Adult
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 11*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infertility, Male / genetics*
  • Karyotyping
  • Male
  • Psychomotor Performance*