Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations.
BRCA2
Fanconi anemia
Genetic counseling
Genetics
Polymalformative symdrome
Prenatal diagnosis
VACTERL‐H
ultrasound
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Sep 2021
Sep 2021
Historique:
received:
09
06
2021
revised:
20
07
2021
accepted:
30
07
2021
entrez:
29
9
2021
pubmed:
30
9
2021
medline:
30
9
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34584710
doi: 10.1002/ccr3.4838
pii: CCR34838
pmc: PMC8457408
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e04838Informations de copyright
© 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
None declared.
Références
Blood. 2004 Apr 1;103(7):2554-9
pubmed: 14670928
Hum Mutat. 2012 Aug;33(8):1228-38
pubmed: 22505045
J Med Genet. 2007 Jan;44(1):1-9
pubmed: 16825431
J Med Genet. 2014 Feb;51(2):71-5
pubmed: 24259538
J Med Genet. 2005 Feb;42(2):147-51
pubmed: 15689453
Mol Syndromol. 2013 Feb;4(1-2):87-93
pubmed: 23653579
Mol Syndromol. 2012 Sep;3(3):120-130
pubmed: 23112754
Am J Hum Genet. 1997 May;60(5):1236-9
pubmed: 9150172
Fetal Diagn Ther. 2019;45(6):403-412
pubmed: 30121677
Fam Cancer. 2017 Jul;16(3):441-446
pubmed: 28185119
Blood. 2004 Apr 15;103(8):3226-9
pubmed: 15070707
Int J Cancer. 2002 Feb 1;97(4):472-80
pubmed: 11802209