Ring chromosome 3 in a retarded boy.
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.
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3; D004487:Edema / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype