title: Prenatal diagnosis of de novo (7;19)(q11.2;q13.3) translocation associated with a thick corpus callosum and Wilms tumor of the kidneys.
abstract: We present a case of prenatal diagnosis of a de novo (7;19)(q11.2;q13.3) translocation associated with ultrasound features, including enlarged cisterna magna, normal vermis, thick corpus callosum, micrognathia, small and low-set ears and right hyperechogenic kidney. Karyotyping was performed at 24 weeks of gestation. Termination of pregnancy was accepted at the parents' request. Postmortem examination confirmed the prenatal findings, but revealed bilateral Wilms tumors of the kidneys. Parental karyotype was normal.
authors.affiliation: Department of Obstetrics and Gynecology, Paris-Ouest University, France.
authors.forename: Ottavia
authors.initials: O
authors.lastname: Cavicchioni
authors.forename: Denise Molina
authors.initials: DM
authors.lastname: Gomes
authors.forename: Brigitte
authors.initials: B
authors.lastname: Leroy
authors.forename: François
authors.initials: F
authors.lastname: Vialard
authors.forename: Yvette
authors.initials: Y
authors.lastname: Hillion
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Selva
authors.forename: Yves
authors.initials: Y
authors.lastname: Ville
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D061085:Agenesis of Corpus Callosum; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic / Q000235:genetics*; D009396:Wilms Tumor / Q000235:genetics*