De novo deletion (2) (p11.2p13): Clinical, cytogenetic, and immunological data

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 (κ/λ ratio: 0.7) was found, compatible with deletion of one Igκ allele on chromosome 2p12. The patient had no clinical or laboratory signs of immunodeficiency.