Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face
| Autor: | Michael B. Petersen, Yolanda Gyftodimou, Maria Grigoriadou, Haris Kokotas, Efi Pandelia, Catherine Sarri, Kristin Mrasek, S. Kalogirou, Anja Weise |
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| Rok vydání: | 2005 |
| Předmět: |
Genetic Markers
Heart Defects Congenital Marker chromosome Biology Craniofacial Abnormalities Gene duplication Genetics medicine Humans Supernumerary Abnormalities Multiple Child Molecular Biology Small supernumerary marker chromosome Genetics (clinical) In Situ Hybridization Fluorescence Chromosome Aberrations medicine.diagnostic_test Chromosome Chromosome Mapping Karyotype medicine.disease Uniparental disomy Karyotyping Chromosomes Human Pair 6 Female Fluorescence in situ hybridization |
| Zdroj: | Cytogenetic and genome research. 114(3-4) |
| ISSN: | 1424-859X |
| Popis: | We describe a female patient with a small supernumerary marker chromosome (sSMC) present in mosaic and characterized in detail by fluorescence in situ hybridization (FISH) using all 24 human whole chromosome painting probes, multicolor banding (MCB) and subcentromere specific multicolor FISH (subcenM-FISH). The sSMC was demonstrated to be derived from chromosome 5 and the karyotype of our patient was as follows: 47,XX,+mar.ish r(5)(::p13.2∼p13.3→q11.2::) [60%]/46,XX [40%]. Partial trisomy for the proximal 5p and q chromosomal regions is a rare event. A critical region exists at 5p13 for the phenotype associated with duplication 5p. As far as we know, eight similar cases have been published up to now. We describe a new case which, to our knowledge, is the first characterized in such detail. The role of uniparental disomy (UPD) in cases of SMC is also discussed. |
| Databáze: | OpenAIRE |
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