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A case of germline mosaicism for a 7q32.1q33 deletion in a sperm donor: consequences on pregnancy follow-up and recommendations

BACKGROUND: Germline mosaicism is considered to be a rare event. However, its occurrence is underestimated due to the limited availability of germ cells. The genomic variations that underlie this phenomenon comprise single nucleotide polymorphism (SNPs), copy number variations (CNVs) and aneuploidie...

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Detalles Bibliográficos
Autores principales:	Chalas, Celine, Receveur, Aline, Frydman, Nelly, Massin, Nathalie, Tachdjian, Gerard, Drouineaud, Veronique, Benachi, Alexandra, Patrat, Catherine, Petit, Francois Michael
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7532087/ https://www.ncbi.nlm.nih.gov/pubmed/33024563 http://dx.doi.org/10.1186/s12610-020-00113-5

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