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...

Descripción completa

Detalles Bibliográficos
Autores principales: Mansfield, Nerida, Boogert, Tom, McLennan, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
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
Descripción
Sumario: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 identifying sex chromosome abnormalities via NIPT.

Ejemplares similares