Ring chromosome 10 syndrome: case report and the possibility of clinical diagnosis.
A 2-year-old boy, whose clinical abnormalities included growth retardation(3rd percentile), mild mental retardation (DQ = 67), microcephaly, hypertelorism, strabismus, prominent nasal bridge, stubby nose, pointed chin, undescended testes and hydronephrosis, had a ring chromosome 10. Using high-resolution banding technique, the breakpoints were decided at p15.3 and q26.3 of chromosome 10. The clinical features observed in this case were common in 8 other cases with ring chromosome 10 previously reported. Thus, the terminal deletion of both arms of chromosome 10 seems to be the cause of the specific clinical abnormalities. When a patient has the clinical common abnormalities above mentioned, ring chromosome 10 syndrome will be suspected before chromosome analysis.
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000473:pathology; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D006869:Hydronephrosis / Q000209:etiology; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D010641:Phenotype