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  • Title: Ring chromosome 14: a distinct clinical entity.
    Author: Schmidt R, Eviatar L, Nitowsky HM, Wong M, Miranda S.
    Journal: J Med Genet; 1981 Aug; 18(4):304-7. PubMed ID: 7277427.
    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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