Two cases of ring chromosome 11.
Two cases of ring chromosome 11 are reported. Both had mental retardation, microcephaly, and short stature. High resolution G banding in case 1 showed no visible loss of chromatin, the karyotype being assessed as 46,XX,r(11) (p15 X 4q2 X 5). In case 2, a Wilm's tumour developed at 8 months and the child died at 18 months. Cytogenetic analysis by Q banding demonstrated minimal chromosome deletion and the karyotype was considered to be 46,XY,r(11) (p15q25).
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007680:Kidney Neoplasms / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009396:Wilms Tumor / Q000235:genetics