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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...
Autores principales: | Ishibashi, Makiho, Watanabe, Takafumi, Kyozuka, Hyo, Yamaguchi, Akiko, Sato, Kenichi, Sato, Maki, Go, Hayato, Fujimori, Keiya |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Fukushima Society of Medical Science
2021
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Materias: | |
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 |
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