Article
Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.
American journal of medical genetics - 30 Jan 1995
Reardon W, Gibbons R J, Winter R M, Baraitser M
Abstract excerpt
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.
Topics
- Abnormalities, Multiple
- Disorders of Sex Development
- Genetic Linkage
- Genotype
- Humans
- Infant, Newborn
- Intellectual Disability
- Male
- Pedigree
- Phenotype
- Syndrome
- X Chromosome