A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report

• Main Authors: Makiko Tsutsumi (Author), Hiroyoshi Hattori (Author), Nobuhiro Akita (Author), Naoko Maeda (Author), Toshinobu Kubota (Author), Keizo Horibe (Author), Naoko Fujita (Author), Miki Kawai (Author), Yasuko Shinkai (Author), Maki Kato (Author), Takema Kato (Author), Rie Kawamura (Author), Fumihiko Suzuki (Author), Hiroki Kurahashi (Author)
• Format: Bog
• Udgivet: BMC, 2019-12-01T00:00:00Z.
• Fag: article
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Abstract Background Female carriers of a balanced X; autosome translocation generally undergo selective inactivation of the normal X chromosome. This is because inactivation of critical genes within the autosomal region of the derivative translocation chromosome would compromise cellular function. W...