Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies

Background: Balanced translocation (BT) carriers can produce imbalanced gametes and experience recurrent spontaneous abortions (RSAs) and even give birth to a child with complex chromosomal disorders. Here, we report a cryptic BT, t(5; 6) (p15.31; p25.1), in the proband’s grandmother, which caused u...

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Detalles Bibliográficos
Autores principales: Xie, Min, Xue, Jiangyang, Zhang, Yuxin, Zhou, Ying, Yu, Qi, Li, Haibo, Li, Qiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512417/
https://www.ncbi.nlm.nih.gov/pubmed/37745854
http://dx.doi.org/10.3389/fgene.2023.1248544

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512417/
https://www.ncbi.nlm.nih.gov/pubmed/37745854
http://dx.doi.org/10.3389/fgene.2023.1248544

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