Ring chromosome 14: a distinct clinical entity. Issue 4 (August 1981)

• Record Type: Journal Article
• Authors: Schmidt, R; Eviatar, L; Nitowsky, H M; Wong, M; Miranda, S
• Is Part Of: Journal of medical genetics. Volume 18:Issue 4(1981)
• Page Start: 304
• Page End: 307
• Publication Date: 1981-08
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.18.4.304
• Languages: English
• ISSNs: 1468-6244

Abstract

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.