Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations

Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations

Abstract Testing the partner of a BRCA2 carrier must always be discussed. If both members of the couple are BRCA2 carriers, they should be informed about the high risks of polymalformative syndromes.

Bibliographic Details
Main Authors: Aude Anquetil, Suonavy Khung Savatovsky, Laurent Gavard, Anne Bazin, Fabien Guimiot, Christele Dubourg, Laurent Mandelbrot, Olivier Picone
Format: Article
Language:English
Published: Wiley 2021-09-01
Series:Clinical Case Reports
Subjects:
BRCA2
Fanconi anemia
Genetics
Genetic counseling
Polymalformative symdrome
Prenatal diagnosis
Online Access:https://doi.org/10.1002/ccr3.4838

Internet

https://doi.org/10.1002/ccr3.4838

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