8.5 Mb deletion at distal 5p in a male ascertained for azoospermia

Am J Med Genet A. 2005 Mar 1;133A(2):189-92. doi: 10.1002/ajmg.a.30519.

Abstract

We report on a 5p- azoospermic male not showing the clinical features diagnostic for the cri-du-chat syndrome but for a breathy, raspy voice. The 5p deletion breakpoint, determined by fluorescent in situ hybridization (FISH) analysis with BAC clones, maps 8.5 Mb far from the short arm telomere in 5p15.31. Genotype/phenotype correlations in this subject, including his neuropsychological assessment, led us to define that the gene for the cat-like cry and one gene responsible for mild mental retardation with speech delay map both in the distal 8.5 Mb of chromosome 5 short arm.

Publication types

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

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 5 / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Oligospermia / genetics*
  • Oligospermia / pathology