Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype

BACKGROUND: Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs identified in prenatal cases need careful considerations and correct interpretation if those are harmless or harmful variants from the norm. CASE PRESENTATION: A 28-year-old, gravida 1, p...

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Detalles Bibliográficos
Autores principales: Zhou, Yaqing, Zhang, Mingxi, Zhu, Yanmin, Zhao, Qi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9635178/
https://www.ncbi.nlm.nih.gov/pubmed/36329552
http://dx.doi.org/10.1186/s13039-022-00626-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9635178/
https://www.ncbi.nlm.nih.gov/pubmed/36329552
http://dx.doi.org/10.1186/s13039-022-00626-w

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