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Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high-resolution array CGH
  1. Nicole Maria C. Maas (nicole.maas{at}gen.unimaas.nl)
  1. Centre for Human-Genetics, University of Leuven, Leuven, Belgium, Belgium
    1. Griet Van Buggenhout (griet.vanbuggenhout{at}uz.kuleuven.ac.be)
    1. Centre for Human-Genetics, University of Leuven, Leuven, Belgium, Belgium
      1. Femke Hannes (femke.hannes{at}uz.kuleuven.ac.be)
      1. Centre for Human-Genetics, University of Leuven, Leuven, Belgium, Belgium
        1. Bernard Thienpont (bernard.thienpont{at}uz.kuleuven.ac.be)
        1. Centre for Human-Genetics, University of Leuven, Leuven, Belgium, Belgium
          1. Damien Sanlaville
          1. Department Department of Genetics, Hôpital Necker-Enfants Malades, Assistance Publique-H&ocirc, France
            1. Klaas Kok
            1. Department of Medical Genetics, University Medical Center Groningen, Groningen, the Netherlands, Netherlands
              1. Alina Midro
              1. Department of Clinical Genetics of the Medical University Bia³ystok, Poland, Poland
                1. Joris Andrieux
                1. St Vincent Hospital, Lille, France, France
                  1. Britt-Marie Anderlid
                  1. Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden, Sweden
                    1. Jacqueline Schoumans
                    1. Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden, Sweden
                      1. Roel Hordijk
                      1. Department of Medical Genetics, University Medical Center Groningen, Groningen, the Netherlands, Netherlands
                        1. Koenraad Devriendt (koen.devriendt{at}med.kuleuven.be)
                        1. Centre for Human-Genetics, University of Leuven, Leuven, Belgium, Belgium
                          1. Jean-Pierre Fryns (jean-pierre.fryns{at}med.kuleuven.be)
                          1. Centre for Human-Genetics, University of Leuven, Leuven, Belgium, Belgium
                            1. Joris Vermeesch (joris.vermeesch{at}med.kuleuven.be)
                            1. Centre for Human-Genetics, University of Leuven, Leuven, Belgium, Belgium

                              Abstract

                              Introduction: The Wolf-Hirschhorn syndrome (WHS) is usually caused by terminal deletions of the short arm of chromosome 4 and is phenotypically defined by growth and mental retardation, seizures, and specific craniofacial manifestations. Large variation is observed in phenotypic expression of these features. In order to compare the phenotype with the genotype, we localized the breakpoints of the 4pter aberrations using a chromosome 4 specific tiling BAC/PAC array. Methods: In total, DNA from 21 patients was analyzed, of which 8 had a cytogenetic visible and 13 a submicroscopic deletion. Result and conclusion: In addition to classical terminal deletions sized between 1.9 and 30 Mb, we observed the smallest terminal deletion (1.4 Mb) ever reported in a patient with mild WHS stigmata. In addition, we identified and mapped interstitial deletions in four patients. This study positions the genes causing microcephaly, intrauterine and postnatal growth retardation between 0.3 and 1.4 Mb and further refines the regions causing CHD, CL/P, oligodontia, and hypospadias.

                              • WHS
                              • chromosome 4
                              • deletion
                              • genotype-phenotype
                              • tiling array CGH

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