TY - JOUR T1 - De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data. JF - Journal of Medical Genetics JO - J Med Genet SP - 72 LP - 73 DO - 10.1136/jmg.31.1.72 VL - 31 IS - 1 AU - F J Los AU - J O Van Hemel AU - H J Jacobs AU - S L Drop AU - J J van Dongen Y1 - 1994/01/01 UR - http://jmg.bmj.com/content/31/1/72.abstract N2 - 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. ER -