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

Richard Kellermayer, Márta Czakó, Zsuzsanna Kiss-László, Petra Gyuris, Adrienn Kozári, Béla Melegh, György Kosztolányi

Research output: Article

6 Citations (Scopus)

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 α-thalassemia/mental retardation syndrome.

Original languageEnglish
Pages (from-to)431-433
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume132 A
Issue number4
DOIs
Publication statusPublished - febr. 1 2005

    Fingerprint

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this