The ring nature of a tiny supernumerary chromosome fragment.
We report a 5 1/2-year-old girl with a tiny supernumerary chromosome fragment found in mosaic. The ring nature of the tiny fragment was demonstrated by the detection of the characteristic products of a ring chromosome. The clinical consequence of a ring chromosome and the impact of finding a supernumerary chromosome fragment, especially in the practice of prenatal chromosome diagnosis, are discussed.
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D009030:Mosaicism; D010641:Phenotype