Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation.
A 39 year old male with multiple dysmorphic features was found to have an unstable ring chromosome 7. Clinical findings are presented and compared with the other five reported cases of ring chromosome 7. The main characteristics found in patients with this chromosome constitution are prenatal onset growth deficiency, bone anomalies, pigmentary or vascular skin changes, and ocular and genital anomalies.
Department of Biology, University of São Paulo, Brazil.
C P
CP
Koiffmann
A
A
Diament
D H
DH
de Souza
A
A
Wajntal
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D012303:Ring Chromosomes