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