European Journal of Pediatrics

, Volume 134, Issue 3, pp 201–204 | Cite as

Deletion of the short arm of chromosome 9

A clinically recognisable entity
  • J. P. Fryns
  • J. C. Pedersen
  • H. Duyck
  • G. Fabry
  • H. Van den Berghe
Original Investigations


A partial deletion of the short arm of chromosome 9 is reported in a female newborn and a 12.5 yearold male. The features expressed by both patients, and especially the peculiar type of the craniofacial dysmorphism, confirm the existence of a typical clinical syndrome associated with this partial autosomal monosomy.

Key words

Chromosome 9 Autosomal aberrations Mental retardation Clinical syndromes 


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Copyright information

© Springer-Verlag 1980

Authors and Affiliations

  • J. P. Fryns
    • 1
  • J. C. Pedersen
    • 1
  • H. Duyck
    • 1
  • G. Fabry
    • 1
  • H. Van den Berghe
    • 1
  1. 1.Division of Human GeneticsDepartment of Human BiologyLeuvenBelgium

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