| Autor: |
Guilherme, R.S., Dutra, a.R.N., Perez, a.B.a., Takeno, S.S., Oliveira, M.M., Kulikowski, L.D., Klein, E., Hamid, a.B., Liehr, T., Melaragno, M.I. |
| Předmět: |
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| Zdroj: |
Cytogenetic & Genome Research; May2013, Vol. 139 Issue 4, p284-288, 5p, 2 Diagrams |
| Abstrakt: |
Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, generally equal in size or smaller than a chromosome 20 of the same metaphase spread. Most of them are unexpectedly detected in routine karyotype analyses, and it is usually not easy to correlate them with a specific clinical picture. A small group of sSMCs is derived from more than one chromosome, called complex sSMCs. Here, we report on a patient with a de novo complex sSMC, derived from chromosomes 8 and 14. Banding karyotype analysis, multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism (SNP)-based array, and fluorescence in situ hybridization (FISH) were performed to investigate its origin. Array and FISH analyses revealed a der(14)t(8;14)(p23.2;q22.1)dn. The propositus presents some clinical features commonly found in patients with partial duplication or triplication of 8p and 14q. This is the first report describing a patient with a congenital der(14)t(8;14)(p23.2;q22.1)dn sSMC. Copyright © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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