PT  - JOURNAL ARTICLE
AU  - R Schmidt
AU  - L Eviatar
AU  - H M Nitowsky
AU  - M Wong
AU  - S Miranda
TI  - Ring chromosome 14: a distinct clinical entity.
AID  - 10.1136/jmg.18.4.304
DP  - 1981 Aug 01
TA  - Journal of Medical Genetics
PG  - 304--307
VI  - 18
IP  - 4
4099  - http://jmg.bmj.com/content/18/4/304.short
4100  - http://jmg.bmj.com/content/18/4/304.full
SO  - J Med Genet1981 Aug 01; 18
AB  - 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.