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Clonal lines of aneuploid cells in Rothmund-Thomson syndrome

✍ Scribed by Der Kaloustian, Vazken M. ;McGill, James J. ;Vekemans, Michel ;Kopelman, Hinda R.

Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
399 KB
Volume
37
Category
Article
ISSN
0148-7299

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✦ Synopsis

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)(qll;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.

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