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A report of a child with a deletion (9)(q34.3): a recognisable phenotype?
  1. H Ayyash,
  2. R Mueller,
  3. E Maltby,
  4. P Horsfield,
  5. N Telford,
  6. R Tyler
  1. Department of Paediatrics, Chesterfield and North Derbyshire Royal Hospital, Calow, UK.


    We report a case of a male infant who presented with congenital anomalies and was found to have a de novo deletion in the terminal region of the long arm of chromosome 9. He died at the age of 17 weeks of cardiorespiratory failure owing to RSV positive bronchiolitis. A review of previously published reports documented one previous report of a patient with a deletion of (9)(q34.3) and multiple congenital anomalies. Comparison with the previously reported case suggests that the phenotype observed constitutes a clinically recognisable pattern of malformations.

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