title: Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome.
abstract: 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.
authors.affiliation: Département de Génétique et Unité INSERM 393, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Viot-Szoboszlai
authors.forename: J
authors.initials: J
authors.lastname: Amiel
authors.forename: F
authors.initials: F
authors.lastname: Doz
authors.forename: M
authors.initials: M
authors.lastname: Prieur
authors.forename: J
authors.initials: J
authors.lastname: Couturier
authors.forename: J N
authors.initials: JN
authors.lastname: Zucker
authors.forename: I
authors.initials: I
authors.lastname: Henry
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D016162:Genes, Wilms Tumor; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D014599:Uterus / Q000002:abnormalities; D025721:WT1 Proteins; D009396:Wilms Tumor / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D014157:Transcription Factors; D025721:WT1 Proteins