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Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome
Author(s) -
ViotSzoboszlai G.,
Amiel J.,
Doz F.,
Prieur M.,
Couturier J.,
Zucker JN,
Henry I.,
Munnich A.,
Vekemans M.,
Lyonnet S.
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02696.x
Subject(s) - gonadal dysgenesis , wilms' tumor , biology , chromosome , dysgenesis , genetics , endocrinology , karyotype , medicine , gene , cancer research
Here we report Wilms' tumor, gonadal dysgenesis and a bifid uterus in an 18‐month‐old female with a terminal deletion of the long arm of chromosome 2 [46, XX, del(2)(q37.1)]. Since Wilms' tumor has been previously reported in the 2q37 deletion syndrome, the present observation raises the question of whether a tumor susceptibility gene maps to chromosome 2q37 and suggests giving consideration to the possible occurrence of Wilms' tumor in the course of disease.