[Chromosomal mosaicism in the r (15) syndrome].
Clinical, biochemical and cytogenetic description of a boy with a karyotype 46, XY, r(15) is given. The data obtained suggest that the phenotypic abnormalities of the propositus may be conditioned by the following reasons: 1) deletion of some genetic material from the chromosome 15; 2) position effect of the genes situated near the break points; 3) mosaicism of the chromosome sets owing to sister chromatid exchanges in the ring chromosome. Some clinical traits (nanism and mental retardation) of the children with a ring chromsome 15 confirm the originality of the r(15) syndrome.
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18 / Q000648:ultrastructure*; D004392:Dwarfism / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012854:Sister Chromatid Exchange; D013577:Syndrome
Khromosomnyĭ mozaitsizm pri sindrome r (15).