title: Clonal lines of aneuploid cells in Rothmund-Thomson syndrome.
abstract: We report on a 21-month-old white boy with the Rothmund-Thomson syndrome. The karyotype on fibroblasts from an area of skin with poikiloderma showed the 46,XY,17 + der(17),t(2;17)(q11;p13) pattern. Karyotype on fibroblasts from normal skin showed two different abnormal patterns: 47,XY, + 8 and 47,XY, + i(2q). His lymphocytes had a normal 46,XY pattern. These findings indicate in vitro abnormalities. They are explained by a degree of chromosomal instability.
authors: Division of Medical Genetics, McGill University School of Medicine, Montreal, Quebec, Canada.
authors: V M
authors: VM
authors: Der Kaloustian
authors: J J
authors: JJ
authors: McGill
authors: M
authors: M
authors: Vekemans
authors: H R
authors: HR
authors: Kopelman
mesh_terms: D000782:Aneuploidy; D002478:Cells, Cultured; D002871:Chromosome Banding; D005347:Fibroblasts; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D011038:Rothmund-Thomson Syndrome / Q000235:genetics*; D013577:Syndrome