Supernumerary ring chromosome 20 in a mother and her child
| Autor: | M.L. Fonseca e Silva, M. R. Pinto, José Aguiar, Margarida Reis Lima, I. Quelhas |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
Male medicine.medical_specialty Foot Deformities Congenital Ring chromosome Chromosomes Human Pair 20 Mothers Aneuploidy Ring chromosome 20 Biology Familial case Genetics medicine Humans Abnormalities Multiple Ring Chromosomes Supernumerary In Situ Hybridization Fluorescence Genetics (clinical) Gynecology medicine.diagnostic_test Mosaicism fungi Infant medicine.disease Chromosome Banding Severe phenotype Face Karyotyping Fish Female Hand Deformities Congenital Fluorescence in situ hybridization |
| Zdroj: | American Journal of Medical Genetics Part A. :193-196 |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | The authors report a familial case of mosaicism for an extra ring 20, identified by fluorescence in situ hybridization (FISH), in a mother and her child. In spite of the fact that both patients had clinical abnormalities, the more severe phenotype present in the child was probably due to the higher percentage of abnormal cells. To our knowledge, this is the first report of a familial extra ring 20 mosaicism. © 2005 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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