Open AccessCase report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations
Author(s) -
Anquetil Aude,
Khung Savatovsky Suonavy,
Gavard Laurent,
Bazin Anne,
Guimiot Fabien,
Dubourg Christele,
Mandelbrot Laurent,
Picone Olivier
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.4838
Subject(s) - medicine , genetic testing , carrier testing , intensive care medicine , prenatal diagnosis , genetics , pediatrics , pregnancy , fetus , biology
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.