Ring chromosome 14: a distinct clinical entity.
J Med Genet
; 18(4): 304-7, 1981 Aug.
Article
in En
| MEDLINE
| ID: mdl-7277427
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pigmentation Disorders
/
Chromosome Aberrations
/
Chromosomes, Human, 13-15
/
Intellectual Disability
Limits:
Female
/
Humans
/
Infant
Language:
En
Journal:
J Med Genet
Year:
1981
Document type:
Article