PT - JOURNAL ARTICLE AU - F J Los AU - J O Van Hemel AU - H J Jacobs AU - S L Drop AU - J J van Dongen TI - De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data. AID - 10.1136/jmg.31.1.72 DP - 1994 Jan 01 TA - Journal of Medical Genetics PG - 72--73 VI - 31 IP - 1 4099 - http://jmg.bmj.com/content/31/1/72.short 4100 - http://jmg.bmj.com/content/31/1/72.full SO - J Med Genet1994 Jan 01; 31 AB - 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.