Cargando…

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

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.

Detalles Bibliográficos
Autores principales:	Anquetil, Aude, Khung Savatovsky, Suonavy, Gavard, Laurent, Bazin, Anne, Guimiot, Fabien, Dubourg, Christele, Mandelbrot, Laurent, Picone, Olivier
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457408/ https://www.ncbi.nlm.nih.gov/pubmed/34584710 http://dx.doi.org/10.1002/ccr3.4838

Ejemplares similares

Polymalformative syndrome with congenital heart defect
por: Marcos, Sara Pimentel, et al.
Publicado: (2015)

Antenatal diagnosis of absence of septum pellucidum
por: Ben M'Barek, Imane, et al.
Publicado: (2020)

Congenital Nasal Pyriform Aperture Stenosis in Association With Polymalformative Syndrome of the Midline
por: Tropsek, Robert, et al.
Publicado: (2023)

A case of meningitis due to Achromobacter xylosoxidans in a child with a polymalformative syndrome: a case report
por: Borni, Mehdi, et al.
Publicado: (2021)

Retraction: a case of meningitis due to Achromobacter xylosoxidans in a child with a polymalformative syndrome: a case report
Publicado: (2021)

First case of pregnant women bacteraemia and probable early-onset neonatal infection due to Aerococcus urinae
por: Jost, Christelle, et al.
Publicado: (2014)

PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes
por: Trakadis, Yannis J, et al.
Publicado: (2014)

Evidence and possible mechanisms of rare maternal-fetal transmission of SARS-CoV-2
por: Egloff, Charles, et al.
Publicado: (2020)

Variole du singe : propositions de conduite à tenir chez les femmes enceintes
por: Mandelbrot, Laurent, et al.
Publicado: (2023)

Biallelic BRCA Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline BRCA1/2 Carriers
por: Wineland, Dylane, et al.
Publicado: (2023)

Functional Role of P-Glycoprotein and Binding Protein Effect on the Placental Transfer of Lopinavir/Ritonavir in the Ex Vivo Human Perfusion Model
por: Ceccaldi, Pierre-Francois, et al.
Publicado: (2009)

Placental transfer and safety in pregnancy of medications under investigation to treat coronavirus disease 2019
por: Louchet, Margaux, et al.
Publicado: (2020)

Current practices of management of maternal and congenital Cytomegalovirus infection during pregnancy after a maternal primary infection occurring in first trimester of pregnancy: Systematic review
por: Périllaud-Dubois, Claire, et al.
Publicado: (2021)

Retinitis Pigmentosa Due to Rp1 Biallelic Variants
por: Silva, Rita Sousa, et al.
Publicado: (2020)

Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report
por: Rolland, Marion, et al.
Publicado: (2022)

Cloaca in Discordant Monoamniotic Twins: Prenatal Diagnosis and Consequence for Fetal Lung Development
por: Chitrit, Yvon, et al.
Publicado: (2014)

Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency
por: Chirita-Emandi, Adela, et al.
Publicado: (2021)

Holoprosencephaly
por: Dubourg, Christèle, et al.
Publicado: (2007)

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations
por: Vetro, Annalisa, et al.
Publicado: (2020)

Remarkable Response to Olaparib in a Patient with Combined Hepatocellular-Cholangiocarcinoma Harboring a Biallelic BRCA2 Mutation
por: Su, Yu-Li, et al.
Publicado: (2021)

CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions
por: Dominik, Natalia, et al.
Publicado: (2020)

Case report of syndromic multiple spiradenomas due to biallelic functional loss of CYLD
por: Beatty, Colleen J., et al.
Publicado: (2022)

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1
por: Castle, Alison M.R., et al.
Publicado: (2021)

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations
por: Wang, Weili, et al.
Publicado: (2019)

Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants
por: Mousa, Jehan, et al.
Publicado: (2022)

Does the availability of influenza vaccine at prenatal care visits and of immediate vaccination improve vaccination coverage of pregnant women?
por: Alessandrini, Vivien, et al.
Publicado: (2019)

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragility
por: Keupp, Katharina, et al.
Publicado: (2019)

Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient
por: Gschwind, Markus, et al.
Publicado: (2022)

Prenatal care providers’ perceptions of the SARS-Cov-2 vaccine for themselves and for pregnant women
por: Deruelle, Philippe, et al.
Publicado: (2021)

Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations
por: Wang, Yi, et al.
Publicado: (2016)

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion
por: Lekszas, Caroline, et al.
Publicado: (2020)

Pregnant women’s perceptions of the COVID-19 vaccine: A French survey
por: Egloff, Charles, et al.
Publicado: (2022)

A Robust and Fast/Multiplex Pharmacogenetics Assay to Simultaneously Analyze 17 Clinically Relevant Genetic Polymorphisms in CYP3A4, CYP3A5, CYP1A2, CYP2C9, CYP2C19, CYP2D6, ABCB1, and VKORC1 Genes
por: Tron, Camille, et al.
Publicado: (2022)

Biallelic Germline Transcription at the κ Immunoglobulin Locus
por: Singh, Nandita, et al.
Publicado: (2003)

Biallelic Mismatch Repair Deficiency in an Adolescent Female
por: Hildreth, Amber, et al.
Publicado: (2018)

Biallelic mutations in UGDH cause congenital microcephaly
por: Shu, Li, et al.
Publicado: (2023)

Causes and consequences of fever during pregnancy: A retrospective study in a gynaecological emergency department
por: Egloff, C., et al.
Publicado: (2020)

The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine
por: Li, Hong, et al.
Publicado: (2018)

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
por: Johnstone, Devon L., et al.
Publicado: (2020)

Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia
por: Colin, Elia, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_7qh901u5j2epn8uqdgns3h46ss