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Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes

BACKGROUND: Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line. Several cytogenetic techniques have been used for diagnosing of uncommon abnormal sex chromosome abnormalities in prenatal cases. CASE PRE...

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Detalles Bibliográficos
Autores principales: Liu, Yuan, Guo, Li, Chen, Hanbiao, Lu, Jian, Hu, Jingjing, Li, Xianzheng, Li, Xing, Wang, Ting, Li, Fengzhen, Yin, Aihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327517/
https://www.ncbi.nlm.nih.gov/pubmed/30647775
http://dx.doi.org/10.1186/s13039-018-0413-1