Alpha-thalassemia/mental retardation syndrome in a 45,X male.
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.
Kellermayer
Richard
R
Department of Medical Genetics and Child Development, University of Pécs, Hungary. richard.kellermayer@aok.pte.hu
Czakó
Márta
M
Kiss-László
Zsuzsanna
Z
Gyuris
Petra
P
Kozári
Adrienn
A
Melegh
Béla
B
Kosztolányi
György
G
D000293:Adolescent; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D012729:Sex Chromosome Aberrations; D013577:Syndrome; D014178:Translocation, Genetic; D017085:alpha-Thalassemia / Q000235:genetics* / Q000473:pathology