Ring chromosome 11. A case report and review of the literature.
A female infant with severe growth-weight retardation and with a ring chromosome 11, associated with trisomy X in 15% of metaphases, has been reported. A literature review of cases of r(11) shows that the clinical features of these patients, although showing different frequencies, are similar to those of the del(11q) syndrome. It has been suggested that the variability of the mental retardation in r(11) patients is attributable to the unstability of the ring and to the different break points in these two chromosomal rearrangements. The origin of the r(11) was also addressed by studying fragile sites of the parents at 11p15 and 11q25.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D012303:Ring Chromosomes; D014314:Trisomy; D014960:X Chromosome