title: X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family.
abstract: 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.
authors.affiliation: Laboratoire de Cytogénétique, Hôpital St-Charles, CHU de Montpellier, France.
authors.forename: G
authors.initials: G
authors.lastname: Lefort
authors.forename: J
authors.initials: J
authors.lastname: Taib
authors.forename: A
authors.initials: A
authors.lastname: Toutain
authors.forename: C
authors.initials: C
authors.lastname: Houdayer
authors.forename: C I
authors.initials: CI
authors.lastname: Moraine
authors.forename: C
authors.initials: C
authors.lastname: Humeau
authors.forename: P
authors.initials: P
authors.lastname: Sarda
mesh_terms: D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities; D005602:France; D008040:Genetic Linkage; D006403:Hematologic Tests; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000097:blood / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014960:X Chromosome; D017085:alpha-Thalassemia / Q000097:blood / Q000235:genetics*