title: 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 (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.
authors.affiliation: Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.
authors.forename: F J
authors.initials: FJ
authors.lastname: Los
authors.forename: J O
authors.initials: JO
authors.lastname: Van Hemel
authors.forename: H J
authors.initials: HJ
authors.lastname: Jacobs
authors.forename: S L
authors.initials: SL
authors.lastname: Drop
authors.forename: J J
authors.initials: JJ
authors.lastname: van Dongen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000276:immunology; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2; D005145:Face / Q000002:abnormalities; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007145:Immunoglobulin kappa-Chains / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics*; D013577:Syndrome; D014820:Vitiligo / Q000151:congenital
chemical_list: D007145:Immunoglobulin kappa-Chains