Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.
Genital abnormalities have been noted in several patients with the X-linked form of alpha-thalassemia and mental retardation syndrome (ATR-X). The initial clinical report of the condition documented a phenotypic female with 46,XY karyotype. To this we now add 2 further siblings with abnormalities of the external genitalia, manifesting as male pseudohermaphroditism.
Reardon
W
W
Department of Clinical Genetics and Fetal Medicine, Hospital for Sick Children, London, United Kingdom.
Gibbons
R J
RJ
Winter
R M
RM
Baraitser
M
M
D000015:Abnormalities, Multiple / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics*; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014960:X Chromosome; D017085:alpha-Thalassemia / Q000235:genetics*