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Rothmund-Thomson syndrome complicated by osteosarcoma

✍ Scribed by J. S. Green; Andrew B. Rickett

Publisher: Springer-Verlag
Year: 1998
Tongue: English
Weight: 769 KB
Volume: 28
Category: Article
ISSN: 0301-0449
DOI: 10.1007/s002470050290

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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