| Autor: |
Mackie Ogilvie C; Division of Medical and Molecular Genetics, King's, Guy's and St. Thomas' Medical School, London, UK. caroline.ogilvie@kcl.ac.uk, Harrison RH, Horsley SW, Hodgson SV, Kearney L |
| Jazyk: |
angličtina |
| Zdroj: |
Cytogenetics and cell genetics [Cytogenet Cell Genet] 2001; Vol. 92 (1-2), pp. 69-73. |
| DOI: |
10.1159/000056871 |
| Abstrakt: |
A two year-old child presented with mild developmental delay. On karyotype analysis, a supernumerary small marker chromosome (SMC) was found in all cells examined. This SMC was approximately the size of an isochromosome 18p, being symmetrical with a central constriction. C-banding and silver staining were negative and FISH with all chromosome-specific paints, centromere probes and telomere probes showed no hybridization to the SMC; telomere repeat sequences were however present on both arms. Comparative genomic hybridization showed no amplification of any chromosome region. Flow sorting of the SMC and reverse painting onto normal metaphase spreads showed no hybridization to any chromosome, whereas reverse painting onto the patient's own metaphases showed hybridization to the SMC only. This SMC may thus represent either a complex amplicon of different genomic regions, or a multifold amplification of a very small region, with a neocentromere comprising an active kinetochore but no alphoid DNA. Prognostic implications for the proband were difficult to assess due to the absence of reports of similar marker chromosomes in the literature. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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