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Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing

Case report involving a normal female by NIPT with male external genitalia on routine fetal morphology assessment. QF-PCR, CGH microarray, and FISH revealed an unbalanced translocation, involving the short arms of the X and Y chromosomes. This case demonstrates the possible limitations of correctly...

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Detalles Bibliográficos
Autores principales: Mansfield, Nerida, Boogert, Tom, McLennan, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614655/
https://www.ncbi.nlm.nih.gov/pubmed/26509022
http://dx.doi.org/10.1002/ccr3.352