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Case Reports
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

    Abstract

    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.

    https://doi.org/10.1136/jmg.18.1.71

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