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Wilms' tumor, malformative syndrome, mental retardation and de novo constitutional translocation, t(7;13)(q36;q13)

✍ Scribed by J. L. Bernard; M. A. Baeteman; J. F. Mattei; C. Raybaud; F. Giraud

Book ID: 104776334
Publisher: Springer
Year: 1984
Tongue: English
Weight: 613 KB
Volume: 141
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf00443220

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✦ Synopsis

An apparently balanced de novo constitutional translocation (7;13) (q36;q13) was detected on peripheral lymphocytes and fibroblasts of a 14-month-old boy. The patient presented a facial dysmorphism with hydrocephaly and mental retardation associated with a Wilms' tumor. A pure coincidence of random association cannot be ruled out but one can equally assert the plausibility of a minimal unnoticed deletion or a position effect.

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