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Monosomy 22 with mosaicism
  1. M S Moghe,
  2. Z M Patel,
  3. J J Peter,
  4. L M Ambani
  1. 1Unit of Medical Genetics, Institute for Research in Reproduction, Jehangir Merwanji Street, Parel, Bombay 400 012, India


    A 2-year-old male child with mosaicism for monosomy of chromosome 22 is described. He had moderate psychomotor retardation, generalised hypotonia, large ears, epicanthus, synophrys, and cutaneous syndactyly between all the fingers.

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