Clonal lines of aneuploid cells in Rothmund‐Thomson syndrome
- 1 November 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 37 (3), 336-339
- https://doi.org/10.1002/ajmg.1320370308
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.Keywords
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