De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data. Issue 1 (January 1994)

• Record Type: Journal Article
• Authors: Los, F J; Van Hemel, J O; Jacobs, H J; Drop, S L; van Dongen, J J
• Is Part Of: Journal of medical genetics. Volume 31:Issue 1(1994)
• Page Start: 72
• Page End: 73
• Publication Date: 1994-01
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.31.1.72
• Languages: English
• ISSNs: 1468-6244

Abstract

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.