一名患有X连锁α地中海贫血/智力发育迟缓综合征的日本患者：另一例病例报告。
A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report.
作者信息
Kurosawa K, Asoh M, Akatsuka A, Matsuo T, Ochiai Y, Maekawa K
机构信息
Department of Pediatrics, Tokyo Metropolitan Kita Medical Rehabilitation Center for The Handicapped, Japan.
出版信息
Jpn J Hum Genet. 1996 Sep;41(3):329-32. doi: 10.1007/BF01913176.
PMID:8996969
Abstract
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.
摘要
X连锁α地中海贫血/智力发育迟缓综合征（ATR-X）的特征为严重智力发育迟缓、多种轻微异常以及与一种特殊形式的α地中海贫血相关联。已报道了50例高加索裔患者。这是该综合征在东方患者中的第二例报道。
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