α‐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 α‐thalassemia/mental retardation syndrome. © 2005 Wiley‐Liss, In...

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Bibliographic Details
Published in:American journal of medical genetics 2005-02, Vol.132A (4), p.431-433
Main Authors: Kellermayer, Richard, Czakó, Márta, Kiss‐László, Zsuzsanna, Gyuris, Petra, Kozári, Adrienn, Melegh, Béla, Kosztolányi, György
Format: Article
Language:English
Subjects:
16p
45,X karyotype
Adolescent
alpha-Thalassemia - genetics
alpha-Thalassemia - pathology
Anemias. Hemoglobinopathies
Biological and medical sciences
Chromosomes, Human, Pair 16 - genetics
Chromosomes, Human, Y - genetics
Diseases of red blood cells
General aspects. Genetic counseling
Hematologic and hematopoietic diseases
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability - genetics
Intellectual Disability - pathology
Male
Medical genetics
Medical sciences
Metabolic diseases
Miscellaneous
Other metabolic disorders
Sertoli cell‐only syndrome
Sex Chromosome Aberrations
SRY
Syndrome
Translocation, Genetic
Y chromosome
α‐thalassemia
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Description
Summary: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. © 2005 Wiley‐Liss, Inc.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.30499