Ring chromosome 4.
A mentally and physically retarded boy with a 46,XY,ring (4) (p16q35) chromosome complement is described. Chromosome banding showed that the amount of chromosome material deleted from the ring chromosome 4 was minimal, apparently no more than the telomeres. Chromosomal aberrations appear to be restricted to the production of double-sized dicentric rings, and aneuploidy. The mosiacism resulting from the behavioural peculiarities of ring chromosomes is described as dynamic mosaicism. It is suggested that the clinical features associated with this ring chromosome are more likely to be the result of the effects of a diploid/monosomy 4/polysomy 4 mosaicism than to the deficiency of the telomeric regions of the chromosome.
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009030:Mosaicism