Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation

Cytogenet Genome Res. 2003;101(2):124-9. doi: 10.1159/000074167.

Abstract

In a 6 year old boy referred for mental retardation, fragile X syndrome was ruled out by cytogenetic and molecular analyses. Cytogenetic investigations revealed an inverted X chromosome (p21.3q27.1). A similar chromosomal rearrangement was detected in his mildly mentally retarded mother. Fluorescence in situ hybridization (FISH), using a panel of ordered YAC clones, allowed the identification of YACs spanning both the Xp21.3 and Xq27.1 breakpoints, where many non-specific mental retardation loci have been reported so far. Further investigations by FISH showed that the IL1RAPL1 gene at Xp21.3 was disrupted by the X chromosome inversion and therefore its inactivation may be related to the mental retardation observed in our patients.

Publication types

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

MeSH terms

  • Child
  • Chromosome Inversion*
  • Chromosome Mapping
  • Chromosomes, Human, X*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Pedigree
  • Sex Chromosome Aberrations*
  • X-Linked Intellectual Disability / genetics*