Alpha-thalassemia/mental retardation syndrome in a 45,X male
Richard Kellermayer1, Márta Czakó, Zsuzsanna Kiss-László
1Department of Medical Genetics and Child Development, University of Pécs, Hungary. richard.kellermayer@aok.pte.hu
American Journal of Medical Genetics. Part A
|January 6, 2005
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.
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