Ring chromosome 14: a distinct clinical entity.
Authors:
- R SchmidtRSR Schmidt
- L EviatarLEL Eviatar
- H M NitowskyHNH M Nitowsky
- M WongMWM Wong
- S MirandaSMS Miranda
- 1 August 1981
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 18 (4) , 304-307
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.Keywords
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