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Ring chromosome 14: a distinct clinical entity.
  1. R Schmidt,
  2. L Eviatar,
  3. H M Nitowsky,
  4. M Wong,
  5. S Miranda

    Abstract

    An infant girl with ring chromosome 14 is presented. The findings in this patient and in six previously reported cases of a ring 14 suggest that a characteristic clinical syndrome is associated with this chromosome aberration. The major features of the ring chromosome 14 syndrome include mental retardation, a disorder of skin pigmentation, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.

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