Wilms' tumor, malformative syndrome, mental retardation and de novo constitutional translocation, t(7;13)(q36;q13).
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D005347:Fibroblasts; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007680:Kidney Neoplasms / Q000235:genetics*; D008214:Lymphocytes; D008297:Male; D014178:Translocation, Genetic; D009396:Wilms Tumor / Q000235:genetics*