[Three Japanese children with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)]

No To Hattatsu. 1998 Jul;30(4):283-9.
[Article in Japanese]


X-linked alpha-thalassemia/mental retardation syndrome (ATR-X), which was first reported by Wilkie, et al. in 1991, is a disorder with severe mental retardation, characteristic facial appearance, genital abnormalities, and mild form of alpha-thalassemia. At present, about 50 cases have been reported in the world, but few in Japan. We report 3 cases of this disorder in 2 families. All cases prefer a peculiar posture and show unique movements, such as self-induced vomiting or self-hanging, which can be diagnostic. ATR-X should be considered as a differential diagnosis in all male patients with severe mental retardation.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Child
  • Facies
  • Genetic Linkage*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Sex Chromosomes*
  • Syndrome
  • alpha-Thalassemia / genetics*