Case Report: Antenatal Diagnostic Of A Polymalformative Syndrome Due To Biallelic Brca2 Mutations

Aude Anquetil, Suonavy Khung Savatovsky,Laurent Gavard,Anne Bazin,Fabien Guimiot,Christele Dubourg,Laurent Mandelbrot,Olivier Picone

CLINICAL CASE REPORTS（2021）

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摘要

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.

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关键词

BRCA2, Fanconi anemia, Genetics, Genetic counseling, Polymalformative symdrome, Prenatal diagnosis, ultrasound, VACTERL-H

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