Klinefelter's and Down's syndrome in an adolescent with abnormal EEG
| Autor: | S Darkovski, H Duma, B Apostolovski, N Sofijanov, B Ristevski, D Efinski |
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| Rok vydání: | 1974 |
| Předmět: |
Male
Down syndrome Pediatrics medicine.medical_specialty Adolescent Aneuploidy Electroencephalography Epilepsy Klinefelter Syndrome Genetics medicine Humans Genetics (clinical) S syndrome medicine.diagnostic_test business.industry Karyotype medicine.disease Phenotype Karyotyping Klinefelter syndrome Down Syndrome business Abnormal EEG |
| Zdroj: | Clinical genetics. 5(2) |
| ISSN: | 0009-9163 |
| Popis: | A case of concurrent Klinefelter's and Down's syndromes in an adolescent boy is presented. Cytogenetic study confirmed double aneuploidy (48, XXY,21+). The patient had epilepsy, a feature uncommon in Down's syndrome, but more frequently seen in Klinefelter's syndrome. The EEG revealed a spike focus. Thus, the genotypic constitution has produced a phenotype with signs of both syndromes expressed. |
| Databáze: | OpenAIRE |
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