Article Text

other Versions

PDF
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, MLPA and array-CGH.
  1. Fernanda S Jehee (jehee{at}uol.com.br)
  1. Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, Brazil
    1. Ana C V Krepischi-Santos (krepisch{at}ib.usp.br)
    1. Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, Brazil
      1. Kátia M Rocha (krocha{at}ib.usp.br)
      1. Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, Brazil
        1. Denise C Cavalcanti (denisepc{at}unicamp.br)
        1. Depto de Genética Médica, Faculdade de Ciências Médicas, UNICAMP, Brazil
          1. Chong A Kim (chong{at}icr.hcnet.usp.br)
          1. Instituto da Crianca -HC/FMUSP, Brazil
            1. Debora R Bertola (deborarb{at}icr.hcnet.usp.br)
            1. Instituto da Crianca -HC/FMUSP, Brazil
              1. Luis G Alonso, Dr (lgalonso.ops{at}zaz.com.br)
              1. Centro de Genética Medica, Departamentos de Morfologia e Pediatria, UNIFESP-EPM, Brazil
                1. Carla Sustek D’Angelo (cdangelo{at}ib.usp.br)
                1. Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, Brazil
                  1. Juliana Forte Mazzeu (julianamazzeu{at}yahoo.com)
                  1. Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, Brazil
                    1. Guy Froyen (guy.froyen{at}med.kuleuven.be)
                    1. Human Genome Laboratory, Department of Human Genetics, K.U.Leuven, Leuven, Belgium
                      1. Dorien Lugtenberg (carlarosenberg{at}uol.com.br)
                      1. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
                        1. Angela M Vianna-Morgante (avmorgan{at}ib.usp.br)
                        1. Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, Brazil
                          1. Carla Rosenberg (carlarosenberg{at}uol.com.br)
                          1. Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, Brazil
                            1. Maria Rita Passos-Bueno (passos{at}ib.usp.br)
                            1. Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, Brazil

                              Abstract

                              We present the first comprehensive study on genomic chromosomal analysis in syndromic craniosynostosis. Forty-five patients, excluded for the common monogenic craniosynostotic disorders, were screened with a variety of methods including conventional karyotype, microsatellite segregation analysis, subtelomeric Multiplex Ligation-dependent Probe Amplification (MLPA) and whole-genome array-CGH. Causative abnormalities were present in 42.2% (19/45) of the samples and 27.8% (10/36) of the patients with normal conventional karyotype carried submicroscopic imbalances. Our results include a wide variety of imbalances and point to novel chromosomal regions associated with craniosynostosis. The high incidence of pure duplications or trisomies suggests that these are important mechanisms in craniosynostosis, particularly in those cases involving the metopic suture.

                              Statistics from Altmetric.com

                              Request permissions

                              If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.