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A case of maternal 45,X/46,XX mosaicism detected by non-invasive prenatal testing / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 1120-1122, 2019.
Article Dans Chinois | WPRIM | ID: wpr-776732
ABSTRACT
OBJECTIVE@#To report on a case of maternally derived 45,X mosaicism detected by non-invasive prenatal testing (NIPT).@*METHODS@#Fetal sex chromosomal abnormality was detected by NIPT. Maternally derived 45,X mosaicism was confirmed by chromosome karyotype analysis. Fetal sex chromosome aneuploidy was detected by amniotic fluid chromosome microarray analysis.@*RESULTS@#A maternal 45,X mosaicism was diagnosed. The fetus was confirmed to be normal.@*CONCLUSION@#Maternal 45,X masaicism can be diagnosed by NIPT.
Sujets)
Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Diagnostic prénatal / Aberrations des chromosomes sexuels / Caryotypage / Aneuploïdie / Mosaïcisme Type d'étude: Etude diagnostique Limites du sujet: Femelle / Humains / Grossesse langue: Chinois Texte intégral: Chinese Journal of Medical Genetics Année: 2019 Type: Article

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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Diagnostic prénatal / Aberrations des chromosomes sexuels / Caryotypage / Aneuploïdie / Mosaïcisme Type d'étude: Etude diagnostique Limites du sujet: Femelle / Humains / Grossesse langue: Chinois Texte intégral: Chinese Journal of Medical Genetics Année: 2019 Type: Article