A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening

Concurrent microduplication and microdeletion of the chromosome 22q11.2 region are a rarely reported phenomenon. We describe a case of germline 22q11.21 microduplication syndrome with concurrent mosaic 22q11.2 deletion in a pregnant patient, identified by chromosomal microarray and FISH after noninv...

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Detalles Bibliográficos
Autores principales: Hicks, Melissa A., Lalonde, Emilie, Zoladz, Jessica, Gonik, Bernard, Ebrahim, Salah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10681772/
https://www.ncbi.nlm.nih.gov/pubmed/38025940
http://dx.doi.org/10.1155/2023/9127430

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10681772/
https://www.ncbi.nlm.nih.gov/pubmed/38025940
http://dx.doi.org/10.1155/2023/9127430

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