Perinatal diagnosis of a fetus with an unbalanced translocation 46,XY,der(10)t(6;10)(p22;q26.1) with multiple malformations: a case report and literature review

The phenotype of an unbalanced translocation is characterized by the dosage effects of the affected genes in the translocated chromosome. We present the case of a fetus with a paternally derived unbalanced 46,XY,der(10)t(6;10)(p22;q26.1) translocation, detected following growth retardation and cardi...

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Detalles Bibliográficos
Autores principales: Ishibashi, Makiho, Watanabe, Takafumi, Kyozuka, Hyo, Yamaguchi, Akiko, Sato, Kenichi, Sato, Maki, Go, Hayato, Fujimori, Keiya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Fukushima Society of Medical Science 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460283/
https://www.ncbi.nlm.nih.gov/pubmed/33994433
http://dx.doi.org/10.5387/fms.2020-28

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460283/
https://www.ncbi.nlm.nih.gov/pubmed/33994433
http://dx.doi.org/10.5387/fms.2020-28

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