X连锁α地中海贫血/智力发育迟缓（ATR-X）综合征。一个法国家族中三名男性患者的报告。
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family.
作者信息
Lefort G, Taib J, Toutain A, Houdayer C, Moraine C I, Humeau C, Sarda P
机构信息
Laboratoire de Cytogénétique, Hôpital St-Charles, CHU de Montpellier, France.
出版信息
Ann Genet. 1993;36(4):200-5.
Three male patients with X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome in a large French family are reported. Diagnosis was suspected on particular craniofacial dysmorphism associated with severe mental retardation and X-linked transmission. Hematological investigations, and in particular presence of Hb H inclusions in two of the boys, confirmed diagnosis. The clinical, hematological and radiological features are discussed in order to better define what appears to be a characteristic phenotype.
报道了一个法裔大家庭中的3名患有X连锁α地中海贫血/智力发育迟缓（ATR-X）综合征的男性患者。诊断是基于与严重智力发育迟缓相关的特殊颅面部畸形以及X连锁遗传而怀疑的。血液学检查，特别是其中两名男孩中存在Hb H包涵体，证实了诊断。对临床、血液学和放射学特征进行了讨论，以便更好地界定这一似乎具有特征性的表型。
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