Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings
| Autoři: | Florindo Mollica, Teresa Mattina, D. Mazzone, C. Perfumo, M. Pierluigi, S Scardilli |
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| Zdroj: | Journal of Medical Genetics. 34:945-948 |
| Informace o vydavateli: | BMJ, 1997. |
| Rok vydání: | 1997 |
| Témata: | Pathology, medicine.medical_specialty, Chromosomes, Human, Pair 21, Trisomy, Chromosomal translocation, Biology, Translocation, Genetic, Gene duplication, Genetics, medicine, Humans, Abnormalities, Multiple, In Situ Hybridization, Fluorescence, Genetics (clinical), Partial Trisomy, Breakpoint, Infant, Newborn, Cytogenetics, Chromosome, medicine.disease, Pedigree, Fish |
| Popis: | We describe a patient with double trisomy 9q34.1-->qter and 21pter-->q22.1 resulting from 3:1 segregation of a maternal balanced translocation. The patient shows a clinical syndrome similar to that observed in patients with duplication of the chromosome 9q distal region, while no signs of trisomy 21 were observed. The use of high resolution banding and FISH were of fundamental importance for the cytogenetic diagnosis and for definition of the breakpoints on both chromosomes 9 and 21. |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.34.11.945 |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2e58ec2221a7d583c69acf9699a5ec6 https://doi.org/10.1136/jmg.34.11.945 |
| Rights: | OPEN |
| Přírůstkové číslo: | edsair.doi.dedup.....f2e58ec2221a7d583c69acf9699a5ec6 |
| Autor: | Florindo Mollica, Teresa Mattina, D. Mazzone, C. Perfumo, M. Pierluigi, S Scardilli |
| Rok vydání: | 1997 |
| Předmět: |
Pathology
medicine.medical_specialty Chromosomes Human Pair 21 Trisomy Chromosomal translocation Biology Translocation Genetic Gene duplication Genetics medicine Humans Abnormalities Multiple In Situ Hybridization Fluorescence Genetics (clinical) Partial Trisomy Breakpoint Infant Newborn Cytogenetics Chromosome medicine.disease Pedigree Fish Female Chromosomes Human Pair 9 Research Article |
| Zdroj: | Journal of Medical Genetics. 34:945-948 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.34.11.945 |
| Popis: | We describe a patient with double trisomy 9q34.1-->qter and 21pter-->q22.1 resulting from 3:1 segregation of a maternal balanced translocation. The patient shows a clinical syndrome similar to that observed in patients with duplication of the chromosome 9q distal region, while no signs of trisomy 21 were observed. The use of high resolution banding and FISH were of fundamental importance for the cytogenetic diagnosis and for definition of the breakpoints on both chromosomes 9 and 21. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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