Journal of Applied Genetics

, Volume 52, Issue 2, pp 193–200

Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances

  • Joana Barbosa Melo
  • Liesbeth Backx
  • Joris R. Vermeesch
  • Heloisa G. Santos
  • Ana C. Sousa
  • Nadezda Kosyakova
  • Anja Weise
  • Ferdinand von Eggeling
  • Thomas Liehr
  • Isabel Marques Carreira
Human Genetics ∙ Original Paper

Abstract

Small supernumerary marker chromosomes (sSMC) are a morphological heterogeneous group of additional abnormal chromosomes that cannot be characterized alone by conventional banding cytogenetics. Molecular cytogenetic techniques are valuable tools for the accurate identification of sSMC and a prerequisite for sound genetic counseling based on refined genotype/phenotype correlation. We describe a new case of a retarded patient with an sSMC derived from chromosome 5. The characterization of the sSMC was done by subcentromere-specific multicolor (subcenM) fluorescence in-situ hybridization (FISH) and by full tilling resolution array analysis, after microdissection and amplification of the marker DNA. Uniparental disomy for normal sister chromosomes of the sSMC(5) was excluded. The karyotype was mos47,XX,+r(5)(::p11.1 → q12.1::)[70%]/46,XX[30%], being the trisomic region between 46.15 ∼ 49.56 Mb and 61.25 ∼ 61.335 Mb, a region known to harbor ∼45 annotated genes. Together with a review of the previously described cases of sSMC(5) and duplications involving the 5q proximal region, we can conclude that trisomy of the 5q11 region is associated with learning difficulties and speech delay.

Keywords

FISH Array CGH Array painting Trisomy 5q Ring chromosome 5 Microdissection 

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Web resources

  1. Database of sSMC, http://www.med.uni-jena.de/fish/sSMC/00START.htm. Accessed on 12/05/2010
  2. Ensembl genome browser, http://www.ensembl.org/index.html. Accessed on 12/05/2010

Copyright information

© Institute of Plant Genetics, Polish Academy of Sciences, Poznan 2011

Authors and Affiliations

  • Joana Barbosa Melo
    • 1
  • Liesbeth Backx
    • 2
  • Joris R. Vermeesch
    • 2
  • Heloisa G. Santos
    • 3
  • Ana C. Sousa
    • 3
  • Nadezda Kosyakova
    • 4
  • Anja Weise
    • 4
  • Ferdinand von Eggeling
    • 4
  • Thomas Liehr
    • 4
  • Isabel Marques Carreira
    • 1
  1. 1.Laboratório de Citogenética e Genómica, Centro de Neurociências e Biologia Celular, Faculty of MedicineUniversity of CoimbraCoimbraPortugal
  2. 2.Center for Human Genetics, Katholieke Universiteit LeuvenUniversity Hospital LeuvenLeuvenBelgium
  3. 3.Serviço de Genética MédicaHospital de Santa MariaLisboaPortugal
  4. 4.Institute of Human Genetics and AnthropologyJena University HospitalJenaGermany

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