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Case Reports
Partial deletion of the long arm of chromosome 4: a clinical syndrome
  1. A Lipson*,
  2. J Collist†,
  3. C Green‡
  1. *Department of Medicine, Royal Alexandra Hospital for Children, Camperdown, NSW 2050, Australia.
  2. †Department of Cytogenetics†, Royal Alexandra Hospital for Children, Camperdown, NSW 2050, Australia.
  3. ‡Department of Child Development‡, Royal Alexandra Hospital for Children, Camperdown, NSW 2050, Australia.

    Abstract

    Partial deletion of the long arm of chromosome 4 at q31 results in a clinical syndrome of mental retardation, characteristic ears, facial bone hypoplasia, cleft palate very prone to scarring on repair, and specific hand abnormalities. A female, aged 9 years, is described and compared with six other reported cases.

    https://doi.org/10.1136/jmg.19.2.155

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