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Prenatal diagnosis of a fetus with 46,XX (SRY positive) male syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 1039-1042, 2020.
Artículo en Chino | WPRIM | ID: wpr-827747
ABSTRACT
OBJECTIVE@#To carry out genetic testing for a XXY fetus suggested by non-invasive prenatal testing (NIPT).@*METHODS@#G-banding karyotyping, fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA) were performed on amniocytes from the fetus. The genitalia of the fetus was also examined by Doppler ultrasonography. The result was verified with peripheral blood samples from its parents and a brother.@*RESULTS@#The fetus was found to have a 46,XX karyotype. CMA showed presence of sequences from Yp11.2 (2.635 Mb) and Yp11.31p11.2 (3.706 Mb). FISH assay suggested that the SRY fragment on Yp has translocated to Xpter. No karyotypic or pathogenic CNVs was detected in its parents and brother. The fetus was ultimately diagnosed with 46,XX (SRY positive) male syndrome.@*CONCLUSION@#The combination of G-banding karyotyping, FISH, and CMA is of great significance for attaining accurate prenatal diagnosis for this fetus.
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Tipo de estudio: Estudio diagnóstico Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2020 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Tipo de estudio: Estudio diagnóstico Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2020 Tipo del documento: Artículo