Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period. Indications for prenatal diagnostic testing include a pa...

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Detalles Bibliográficos
Autores principales: Blagowidow, Natalie, Nowakowska, Beata, Schindewolf, Erica, Grati, Francesca Romana, Putotto, Carolina, Breckpot, Jeroen, Swillen, Ann, Crowley, Terrence Blaine, Loo, Joanne C. Y., Lairson, Lauren A., Óskarsdóttir, Sólveig, Boot, Erik, Garcia-Minaur, Sixto, Cristina Digilio, Maria, Marino, Bruno, Coleman, Beverly, Moldenhauer, Julie S., Bassett, Anne S., McDonald-McGinn, Donna M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858737/
https://www.ncbi.nlm.nih.gov/pubmed/36672900
http://dx.doi.org/10.3390/genes14010160

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858737/
https://www.ncbi.nlm.nih.gov/pubmed/36672900
http://dx.doi.org/10.3390/genes14010160

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