X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci

J Med Genet. 1979 Aug;16(4):254-62. doi: 10.1136/jmg.16.4.254.

Abstract

Cytogenetic studies on a retarded girl showed a complex S;15 translocation, karyotype 45,X,-15,+t(X15). The translocation X chromosome was non-randomly partially inactivated, the inactivation being mainly confined to the X segment and in some cells only to the X long arm. Gene marker studies failed to show anomalous segregation of the hexosaminidase A gene or any other gene markers tested.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / complications
  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Chromosome Aberrations / genetics
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosome Mapping*
  • Chromosomes, Human, 13-15 / ultrastructure*
  • Female
  • Genetic Markers
  • Hexosaminidases / genetics*
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Karyotyping
  • Sex Chromosomes / ultrastructure*
  • Translocation, Genetic*
  • X Chromosome / ultrastructure*

Substances

  • Genetic Markers
  • Hexosaminidases