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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| Summary: | 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 the time of the examination, the child had numerous anomalies of development, facial dysmorphia, and a small size of the external genitalia. In addition, there was a pronounced delay in psychomotor development because of the brain damage. We made an attempt to perform a comprehensive analysis of the risks to the patient's health by generalizing the cases of Emanuel syndrome described in the literature. |
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| ISSN: | 2500-0764 2542-0941 |