J Med Genet. 1994 Mar;31(3):245-7.

X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.

Ogle R, DeSouza M, Cunningham C, Kerr B, Sillence D.

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Department of Genetics, Children's Hospital, Camperdown, Australia.

Abstract

Two sibs with non-deletional alpha thalassaemia and mental retardation (ATR-X) have been ascertained showing variable neurological features. The proband had a complex neurological picture with recurrent apnoea, complex partial seizures, and prolonged periods of semiconsciousness between 12 and 17 months of age. Episodes of spontaneous laughter were also a feature. An EEG was initially normal. Hb H inclusions were present but rare in this family. The sole genital anomaly was deficiency of the foreskin, a feature not previously described in ATR-X.

PMID:: 8014976; [PubMed - indexed for MEDLINE]
PMCID:: PMC1049752

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