Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation

Eur J Hum Genet. Mar-Apr 1997;5(2):105-9.

Abstract

Balanced chromosomal abnormalities such as translocations and inversions have been identified in many genetic diseases. Cloning of the breakpoints involved in these abnormalities has led to the identification of the disease-related genes. Recent reports suggest the presence of a mental retardation locus at Xq11-12. We have identified a female patient with a balanced translocation t (X;12) (q11;q15) associated with mild mental retardation. We identified a yeast artificial chromosome spanning the X-chromosome breakpoint by using fluorescent in situ hybridization techniques. A cosmid library of this YAC has been constructed and the search for candidate genes is in progress.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Banding
  • Chromosome Breakage
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 12* / genetics
  • Cosmids
  • DNA Probes
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics*
  • Male
  • Translocation, Genetic / genetics*
  • X Chromosome* / genetics

Substances

  • DNA Probes

Associated data

  • GENBANK/AJ001189