RT Journal Article
SR Electronic
T1 Ring chromosome 14: a distinct clinical entity.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 304
OP 307
DO 10.1136/jmg.18.4.304
VO 18
IS 4
A1 Schmidt, R
A1 Eviatar, L
A1 Nitowsky, H M
A1 Wong, M
A1 Miranda, S
YR 1981
UL http://jmg.bmj.com/content/18/4/304.abstract
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.