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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Detalhes bibliográficos
Publicado no:Basic Clin Androl
Main Authors: Chalas, Celine, Receveur, Aline, Frydman, Nelly, Massin, Nathalie, Tachdjian, Gerard, Drouineaud, Veronique, Benachi, Alexandra, Patrat, Catherine, Petit, Francois Michael
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7532087/
https://ncbi.nlm.nih.gov/pubmed/33024563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12610-020-00113-5
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