Prenatal diagnosis of de novo (7;19)(q11.2;q13.3) translocation associated with a thick corpus callosum and Wilms tumor of the kidneys.
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.
Cavicchioni
Ottavia
O
Department of Obstetrics and Gynecology, Paris-Ouest University, France.
Gomes
Denise Molina
DM
Leroy
Brigitte
B
Vialard
François
F
Hillion
Yvette
Y
Selva
Jacqueline
J
Ville
Yves
Y
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*