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

Eur J Pediatr. 1984 Jan;141(3):175-7. doi: 10.1007/BF00443220.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, 13-15
  • Chromosomes, Human, 6-12 and X
  • Fibroblasts
  • Humans
  • Hydrocephalus / genetics
  • Infant
  • Intellectual Disability / genetics*
  • Kidney Neoplasms* / genetics*
  • Lymphocytes
  • Male
  • Translocation, Genetic*
  • Wilms Tumor / genetics*