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Prenatal diagnosis of de novo (7;19)(q11.2;q13.3) translocation associated with a thick corpus callosum and Wilms tumor of the kidneys
Author(s) -
Cavicchioni Ottavia,
Gomes Denise Molina,
Leroy Brigitte,
Vialard François,
Hillion Yvette,
Selva Jacqueline,
Ville Yves
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1129
Subject(s) - prenatal diagnosis , chromosomal translocation , karyotype , corpus callosum , gestation , medicine , wilms' tumor , fetus , pathology , pregnancy , cisterna magna , anatomy , kidney , obstetrics , biology , chromosome , genetics , cerebrospinal fluid , gene
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. Copyright © 2005 John Wiley & Sons, Ltd.