Article Text

PDF

X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.
  1. R Ogle,
  2. M DeSouza,
  3. C Cunningham,
  4. B Kerr,
  5. D Sillence
  1. 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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.