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:
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
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author Mansfield, Nerida
Boogert, Tom
McLennan, Andrew
author_facet Mansfield, Nerida
Boogert, Tom
McLennan, Andrew
author_sort Mansfield, Nerida
collection PubMed
description 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.
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spelling pubmed-46146552015-10-27 Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing Mansfield, Nerida Boogert, Tom McLennan, Andrew Clin Case Rep Case Reports 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. John Wiley & Sons, Ltd 2015-10 2015-09-03 /pmc/articles/PMC4614655/ /pubmed/26509022 http://dx.doi.org/10.1002/ccr3.352 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Mansfield, Nerida
Boogert, Tom
McLennan, Andrew
Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing
title Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing
title_full Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing
title_fullStr Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing
title_full_unstemmed Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing
title_short Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing
title_sort prenatal diagnosis of a 46,xx male following noninvasive prenatal testing
topic Case Reports
url 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
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AT boogerttom prenataldiagnosisofa46xxmalefollowingnoninvasiveprenataltesting
AT mclennanandrew prenataldiagnosisofa46xxmalefollowingnoninvasiveprenataltesting

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