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Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome
  1. T Y Tan1,
  2. S Aftimos2,
  3. L Worgan3,
  4. R Susman4,
  5. M Wilson4,
  6. S Ghedia5,
  7. E P Kirk5,
  8. D Love6,
  9. A Ronan7,
  10. A Darmanian4,
  11. A Slavotinek8,
  12. J Hogue8,
  13. J B Moeschler9,
  14. J Ozmore9,
  15. R Widmer10,
  16. R Savarirayan1,
  17. G Peters4
  1. 1
    Genetic Health Services Victoria, Murdoch Children’s Research Institute, Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Melbourne, Australia
  2. 2
    Northern Regional Genetic Services, Auckland Hospital, Auckland, New Zealand
  3. 3
    Department of Clinical Genetics, Liverpool Hospital, Liverpool, Australia
  4. 4
    Departments of Clinical Genetics and Cytogenetics, Western Sydney Genetics Program, Children’s Hospital at Westmead, Sydney, Australia
  5. 5
    Department of Medical Genetics, Sydney Children’s Hospital, Randwick, NSW, Australia
  6. 6
    Diagnostic Genetics, LabPLUS, Auckland Hospital, Auckland, New Zealand
  7. 7
    Hunter Genetics Unit, Waratah and University of Newcastle NSW
  8. 8
    Department of Pediatrics, Division of Genetics, University of California, San Francisco, USA
  9. 9
    Clinical Genetics, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, USA
  10. 10
    Dental Department, Children’s Hospital at Westmead, Sydney, Australia
  1. Dr T Y Tan, 10th Floor Royal Children's Hospital, Flemington Road, Parkville, Melbourne 3052, Australia; tiong.tan{at}


Background: 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.

Methods and results: We describe 11 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.

Conclusion: These data have significant implications for the clinical diagnosis and management of other individuals with 17q21.31 deletions.

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  • Competing interests: None.

  • Patient consent: Parental consent obtained.