Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis

BACKGROUND: Non-invasive prenatal testing (NIPT) is currently used as a frontline screening test to identify fetuses with common aneuploidies. Occasionally, incidental NIPT results are conveyed to the clinician suggestive of fetuses with rare chromosome disease syndromes. We describe a child with tr...

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Detalles Bibliográficos
Autores principales: Ma, Jingmei, Cram, David S., Zhang, Jianguang, Shang, Ling, Yang, Huixia, Pan, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4482096/
https://www.ncbi.nlm.nih.gov/pubmed/26120364
http://dx.doi.org/10.1186/s13039-015-0145-4

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