Witkowski R, Ullrich E, Piede U
Hum Genet. 1978 Jun 27;42(3):345-8. doi: 10.1007/BF00291318.
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.
我们报告一名核型为46,XY,r3的男孩,其表现型为精神运动发育迟缓和生长迟缓、颅面畸形、脚趾并指以及足部水肿。其父母的核型和表现型均正常。