Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations.
- Resource Type
- Case Study
- Authors
- Anquetil, Aude; Khung Savatovsky, Suonavy; Gavard, Laurent; Bazin, Anne; Guimiot, Fabien; Dubourg, Christele; Mandelbrot, Laurent; Picone, Olivier
- Source
- Clinical Case Reports. Sep2021, Vol. 9 Issue 9, p1-6. 6p.
- Subject
- *BRCA genes
*FANCONI'S anemia
*SYNDROMES
*GENETIC counseling
- Language
- ISSN
- 2050-0904
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. [ABSTRACT FROM AUTHOR]