Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods

Introduction: Chromosome mosaicism and low-grade mosaicism present a challenge for diagnosis in the era of SNP array and NGS. Tetraploidy is a rare numerical chromosomal abnormality characterized by the presence of four copies of each chromosome. The prevalence of tetraploidy/diploidy mosaicism case...

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Detalles Bibliográficos
Autores principales: Iordanescu, Irina Ioana, Neacsu, Anca Teodora, Catana, Andreea, Barabas-CuzmicI, Zina, Suciu, Viorel, Dragomir, Cristina, Voicu, Diana Elena, Severin, Emilia, Militaru, Mariela Sanda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10684745/
https://www.ncbi.nlm.nih.gov/pubmed/38034493
http://dx.doi.org/10.3389/fgene.2023.1258752

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10684745/
https://www.ncbi.nlm.nih.gov/pubmed/38034493
http://dx.doi.org/10.3389/fgene.2023.1258752

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