Ring chromosome 3 in a retarded boy

Research paper by Regine Witkowski, Eva Ullrich, Ursula Piede

Indexed on: 01 Jan '78Published on: 01 Jan '78Published in: Human Genetics


We present a boy with the karyotype 46,XY,r3 and a phenotype with psychomotor and growth retardation, craniofacial anomalies, syndactyly of the toes, and edema of the feet. The karyotypes and phenotypes of both parents are normal.