title: Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.
abstract: 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.
authors.affiliation: Department of Clinical Genetics and Fetal Medicine, Hospital for Sick Children, London, United Kingdom.
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: R J
authors.initials: RJ
authors.lastname: Gibbons
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
mesh_terms: 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*