Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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.

Original publication

DOI

10.1002/ajmg.1320550308

Type

Journal article

Journal

Am J Med Genet

Publication Date

30/01/1995

Volume

55

Pages

285 - 287

Keywords

Abnormalities, Multiple, Disorders of Sex Development, Genetic Linkage, Genotype, Humans, Infant, Newborn, Intellectual Disability, Male, Pedigree, Phenotype, Syndrome, X Chromosome, alpha-Thalassemia