A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report.
X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) is characterized by severe mental retardation, wide range of minor abnormalities, and association with an unusual form of alpha-thalassemia. Fifty patients in Caucasian origin have been reported. This is the second report of the syndrome demonstrated in Oriental patients.
Kurosawa
K
K
Department of Pediatrics, Tokyo Metropolitan Kita Medical Rehabilitation Center for The Handicapped, Japan.
Asoh
M
M
Akatsuka
A
A
Matsuo
T
T
Ochiai
Y
Y
Maekawa
K
K
D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007564:Japan; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*