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Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints

Here, we report the prenatal detection of a compound heterozygous deletion at chromosome 15q15.3 by clinical chromosomal microarray (CMA) testing that included the CATSPER2 male infertility gene. However, given the low resolution of CMA at this homologous locus, it was unclear if the neighboring STR...

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Detalles Bibliográficos
Autores principales:	Shi, Lisong, Bai, Yan, Kharbutli, Yara, Oza, Andrea M., Amr, Sami S., Edelmann, Lisa, Mehta, Lakshmi, Scott, Stuart A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687617/ https://www.ncbi.nlm.nih.gov/pubmed/31218851 http://dx.doi.org/10.1002/mgg3.806

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