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Research Article
Partial trisomy 3q causing mild Cornelia de Lange phenotype.
  1. S E Holder,
  2. L M Grimsley,
  3. R W Palmer,
  4. L J Butler,
  5. M Baraitser
  1. Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.

    Abstract

    A brother and sister are reported with developmental delay and facial features suggestive of the Cornelia de Lange syndrome. Cytogenetic analysis showed them to be trisomic for the region 3q25.1-26.2 because of the inheritance of an unbalanced interchromosomal insertion from their father, who was a balanced insertion carrier. The clinical phenotype and cytogenetic analysis (including chromosome painting studies) in relation to the possible localisation of the Cornelia de Lange gene are discussed.

    https://doi.org/10.1136/jmg.31.2.150

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