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Perinatal diagnosis of an unbalanced 46, XY, der(10)t(6;10)(p22;q26.1) translocation with multiple malformations: A case report and literature review
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  • Makiho Ishibashi,
  • Takafumi Watanabe,
  • H. Kyozuka,
  • Akiko Yamaguchi,
  • Kenichi Sato,
  • Maki Sato,
  • Hayato Go,
  • Keiya Fujimori
Makiho Ishibashi
Fukushima Medical University School of Medicine
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Takafumi Watanabe
Fukushima Medical University School of Medicine
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H. Kyozuka
Fukushima Medical University School of Medicine
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Akiko Yamaguchi
Fukushima Medical University School of Medicine Department of Obstetrics and Gynecology
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Kenichi Sato
Fukushima Medical University School of Medicine
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Maki Sato
Fukushima Medical University School of Medicine
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Hayato Go
Fukushima Medical University School of Medicine
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Keiya Fujimori
Fukushima Medical University School of Medicine
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Abstract

Phenotype of an unbalanced translocation is characterized by mutations 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 cardiac malformation. Our findings expand the known spectrum of unbalanced translocations for improved clinical management.