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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| Main Authors: | , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Kemerovo State Medical University
2023-06-01
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| Series: | Фундаментальная и клиническая медицина |
| Subjects: | |
| Online Access: | https://fcm.kemsmu.ru/jour/article/view/723 |
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