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