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After an uneventful pregnancy, a boy was born by vacuum extraction at 40.6 weeks' gestation. Physical examination revealed several malformations due to a partial trisomy 9p [karyotype: 46,XY, dup(9)(p13p24)]. Three months after birth, the boy presented with a hepatoblastoma without distant metastases which was treated with chemotherapy combined with surgery. At the last follow-up, 15 years after the resection of the hepatoblastoma, he was still in complete remission. To our knowledge this is the first case report of a patient with a constitutional partial trisomy 9p associated with hepatoblastoma.

Citation

J Marco Schnater, Antoinette Y N Schouten-van Meeteren, Yvonne M Heins, Daniël C Aronson. Hepatoblastoma in a patient with a partial trisomy 9p syndrome: a case report. Cancer genetics and cytogenetics. 2005 Jan 1;156(1):77-9

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PMID: 15588861

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