Alpha-thalassemia/mental retardation syndrome in a 45,X male

Am J Med Genet A. 2005 Feb 1;132A(4):431-3. doi: 10.1002/ajmg.a.30499.

Abstract

An unbalanced Y;autosome translocation leading to a male with a 45,X karyotype is rare with about 30 published cases. A male with a 45,X karyotype as a result of a unique, submicroscopic, unbalanced Y;16 translocation is presented with alpha-thalassemia/mental retardation syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Chromosomes, Human, Pair 16 / genetics
  • Chromosomes, Human, Y / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Sex Chromosome Aberrations*
  • Syndrome
  • Translocation, Genetic
  • alpha-Thalassemia / genetics*
  • alpha-Thalassemia / pathology