X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.
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.
Department of Genetics, Children's Hospital, Camperdown, Australia.
R
R
Ogle
M
M
DeSouza
C
C
Cunningham
B
B
Kerr
D
D
Sillence
D000015:Abnormalities, Multiple / Q000235:genetics*; D003244:Consciousness Disorders / Q000235:genetics; D005145:Face / Q000002:abnormalities; D008040:Genetic Linkage; D006447:Hemoglobin H / Q000032:analysis; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010413:Penis / Q000002:abnormalities; D010641:Phenotype; D012640:Seizures / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome; D017085:alpha-Thalassemia / Q000235:genetics* / Q000473:pathology
D006447:Hemoglobin H