Phenotype-karyotype correlations in dup(18q): Report of a case and review
| Autor: | Férechté Razavi-Encha, Odile Raoul, Marie-Claude Lescs, Claude Danan, John M. Opitz, James F. Reynolds |
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| Rok vydání: | 1985 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Aneuploidy Trisomy Chromosomal translocation Heart defect Early death Biology Bone Marrow Intellectual Disability Chromosomes Human 21-22 and Y medicine Humans Abnormalities Multiple Lymphocytes Genetics (clinical) Chromosomes Human 16-18 Chromosome Aberrations Genetics Infant Newborn Karyotype Syndrome medicine.disease Phenotype Chromosome Banding Karyotyping dup Female |
| Zdroj: | American Journal of Medical Genetics. 21:591-595 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320210321 |
| Popis: | We report on a case of dup(18q) due to de novo translocation 46,XX,-21,t(18;21)(18qter----cen----21qter). The patient had many characteristic signs of full trisomy 18 except for internal organ malformations and early death. We review the phenotype-karyotype correlations between full trisomy 18 and dup(18q) and discuss the possibility of the existence of "critical zone(s)" at the proximal or/and distal region of 18q responsible for most signs of trisomy 18, such as congenital heart defect and early death. |
| Databáze: | OpenAIRE |
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