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Research Article
De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data.
  1. F J Los,
  2. J O Van Hemel,
  3. H J Jacobs,
  4. S L Drop,
  5. J J van Dongen
  1. Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.

    Abstract

    We report a case of a boy with a de novo interstitial deletion of chromosome (2) (p11.2p13). Clinical features included dysmorphism of the face, genital region, and limbs, psychomotor retardation, and vitiligo. A reduced ratio of immunoglobulin (Ig) light chain expression (kappa/lambda ratio: 0.7) was found, compatible with deletion of one Ig kappa allele on chromosome 2p12. The patient had no clinical or laboratory signs of immunodeficiency.

    https://doi.org/10.1136/jmg.31.1.72

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