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

Richard Kellermayer, Márta Czakó, Zsuzsanna Kiss-László, Petra Gyuris, Adrienn Kozári, B. Melegh, G. Kosztolányi

Research output: Contribution to journalArticle

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 - Feb 1 2005

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Thalassemia
Karyotype
Intellectual Disability

Keywords

  • α-thalassemia
  • 16p
  • 45,X karyotype
  • Sertoli cell-only syndrome
  • SRY
  • Y chromosome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

α-thalassemia/mental retardation syndrome in a 45,X male. / Kellermayer, Richard; Czakó, Márta; Kiss-László, Zsuzsanna; Gyuris, Petra; Kozári, Adrienn; Melegh, B.; Kosztolányi, G.

In: American Journal of Medical Genetics, Vol. 132 A, No. 4, 01.02.2005, p. 431-433.

Research output: Contribution to journalArticle

Kellermayer, R, Czakó, M, Kiss-László, Z, Gyuris, P, Kozári, A, Melegh, B & Kosztolányi, G 2005, 'α-thalassemia/mental retardation syndrome in a 45,X male', American Journal of Medical Genetics, vol. 132 A, no. 4, pp. 431-433. https://doi.org/10.1002/ajmg.a.30499
Kellermayer R, Czakó M, Kiss-László Z, Gyuris P, Kozári A, Melegh B et al. α-thalassemia/mental retardation syndrome in a 45,X male. American Journal of Medical Genetics. 2005 Feb 1;132 A(4):431-433. https://doi.org/10.1002/ajmg.a.30499
Kellermayer, Richard ; Czakó, Márta ; Kiss-László, Zsuzsanna ; Gyuris, Petra ; Kozári, Adrienn ; Melegh, B. ; Kosztolányi, G. / α-thalassemia/mental retardation syndrome in a 45,X male. In: American Journal of Medical Genetics. 2005 ; Vol. 132 A, No. 4. pp. 431-433.
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