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Ring chromosome 14: a distinct clinical entity.

1981; BMJ; Volume: 18; Issue: 4 Linguagem: Inglês

10.1136/jmg.18.4.304

1468-6244

Rina Schmidt, Lydia Eviatar, Harold M. Nitowsky, Marty Kwok‐Shing Wong, Siliana Maria Duarte Miranda,

CRISPR and Genetic Engineering

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.