Ring chromosome 14: a distinct clinical entity.

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.

• Authors: R Schmidt, L Eviatar, H M Nitowsky, M Wong, S Miranda
• Journal: Journal of medical genetics (J Med Genet) Vol. 18 Issue 4 Pg. 304-7 (Aug 1981) ISSN: 0022-2593 [Print] England
• PMID: 7277427 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Topics

• Abnormalities, Multiple (genetics)
• Chromosome Aberrations (genetics)
• Chromosome Disorders
• Chromosomes, Human, 13-15 (ultrastructure)
• Female
• Humans
• Infant
• Intellectual Disability (genetics)
• Pigmentation Disorders (genetics)
• Syndrome