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

Abstract

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.

Keywords

• BRCA2
• Fanconi anemia
• Genetics
• Genetic counseling
• Polymalformative symdrome
• Prenatal diagnosis