A case of supernumerary derivative chromosome 22 syndrome in a child

Here we describe a rare case of an abnormal karyotype with a supernumerary derivative chromosome der(22)t(11;22), associated with Emanuel syndrome, in a boy aged 1 year. Familial cytogenetic analysis revealed the maternal origin of the anomaly from reciprocal translocation t(11;22) (q23;q11.2). At t...

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Bibliographic Details
Main Authors: R. V. Olennikova, O. I. Rytenkova, A. N. Volkov
Format: Article
Language:Russian
Published: Kemerovo State Medical University 2023-06-01
Series:Фундаментальная и клиническая медицина
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Online Access:https://fcm.kemsmu.ru/jour/article/view/723
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