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Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype

BACKGROUND: A rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an infertile male with an apparent 45,X karyotype, which was subsequently verified as cryptic translocation between chromosomes Y and 15. METHODS: DNA was...

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Detalles Bibliográficos
Autores principales: Qin, Shengfang, Wang, Xueyan, Wang, Jin, Zhang, Zhuo, Chen, Ximin, Yin, Yan, Ye, Mengling, Li-Ling, Jesse
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842983/
https://www.ncbi.nlm.nih.gov/pubmed/35164811
http://dx.doi.org/10.1186/s13039-022-00581-6