Terminal 14q deletion with unbalanced t(Y;14)(q12;q32) translocation

Clin Dysmorphol. 2012 Jan;21(1):37-41. doi: 10.1097/MCD.0b013e32834d6ba3.

Abstract

Terminal deletions of chromosome 14q are very rarely reported. Schneider et al. (2008) reviewed about 20 cases of 14q32 region deletion in a previous article and only three of the cases involved autosomal translocations; however, no sex chromosome translocations were reported. Here we report the clinical findings of a patient with terminal 14q32 deletion derivated from at (Y;14)(q12;q32) translocation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosome Deletion
  • Chromosomes, Human, Pair 14 / genetics
  • Cytogenetic Analysis
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Sequence Deletion / genetics*
  • Translocation, Genetic / genetics*

Supplementary concepts

  • Chromosome 14q, terminal deletion