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Phenotypic Expansion and Further Characterization of the 17q21.31 Microdeletion Syndrome
  1. Tiong Yang Tan (tiong.tan{at}ghsv.org.au)
  1. Murdoch Children's Research Institute, Melbourne, Australia
    1. Salim Aftimos (salima{at}adhb.govt.nz)
    1. Northern Regional Genetic Services, Auckland Hospital, New Zealand
      1. Lisa Worgan (lisa.worgan{at}swsahs.nsw.gov.au)
      1. Department of Clinical Genetics, Liverpool Hospital, Australia
        1. Rachel Susman (rachels6{at}chw.edu.au)
        1. Children's Hospital at Westmead, Sydney, Australia
          1. Meredith Wilson (merediw{at}chw.edu.au)
          1. Childrens Hospital at Westmead, Sydney, Australia
            1. Sondhya Ghedia (sondhya.ghedia{at}sesiahs.health.nsw.gov.au)
            1. Sydney Children's Hospital, Australia
              1. Edwin P Kirk (edwin.kirk{at}sesiahs.health.nsw.gov.au)
              1. Sydney Children's Hospital, Australia
                1. Donald Love (donaldl{at}adhb.govt.nz)
                1. Diagnostic Genetics, LabPLUS, Auckland Hospital, New Zealand
                  1. Anne Ronan (anne.ronan{at}hnehealth.nsw.gov.au)
                  1. Hunter Genetics Unit, Waratah, NSW and University of Newcastle, Australia
                    1. Artur Darmanian (arturd{at}chw.edu.au)
                    1. Children's Hospital at Westmead, Sydney, Australia
                      1. Anne Slavotinek (slavotia{at}peds.ucsf.edu)
                      1. Department of Pediatrics, Division of Genetics, University of California, San Francisco, United States
                        1. Jacob Hogue (hoguej{at}peds.ucsf.edu)
                        1. Department of Pediatrics, Division of Genetics, University of California, San Francisco, Australia
                          1. John B Moeschler (john.b.moeschler{at}hitchcock.org)
                          1. Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, United States
                            1. Jillian Ozmore (jillian.r.ozmore{at}hitchcock.org)
                            1. Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, United States
                              1. Richard Widmer (richardw{at}chw.edu.au)
                              1. Children's Hospital at Westmead, Sydney, Australia
                                1. Ravi Savarirayan (ravi.savarirayan{at}ghsv.org.au)
                                1. Murdoch Children's Research Institute, Melbourne, Australia
                                  1. Gregory Peters (gregoryp{at}chw.edu.au)
                                  1. Children's Hospital at Westmead, Sydney, Australia

                                    Abstract

                                    The recognition of the 17q21.31 microdeletion syndrome has been facilitated by high-resolution microarray technology. Recent clinical delineation of this condition emphasises a typical facial appearance, cardiac and renal defects, and speech delay in addition to intellectual disability, hypotonia and seizures. We describe eleven previously unreported patients expanding the phenotypic spectrum to include aortic root dilatation, recurrent joint subluxation, conductive hearing loss due to chronic otitis media, dental anomalies and persistence of fetal fingertip pads. Molecular analysis of the deletions demonstrates a critical region spanning 440 kb involving either partially or wholly five genes, CRHR1, IMP5, MAPT, STH and KIAA1267. These data have significant implications for the clinical diagnosis and management of other individuals with 17q21.31 deletions.

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