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

F J Los; J O Van Hemel; H J Jacobs; S L Drop; J J van Dongen

doi:10.1136/jmg.31.1.72

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

J Med Genet. 1994 Jan;31(1):72-3. doi: 10.1136/jmg.31.1.72.

Authors

F J Los¹, J O Van Hemel, H J Jacobs, S L Drop, J J van Dongen

Affiliation

¹ Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / immunology
Chromosome Aberrations / genetics*
Chromosome Deletion*
Chromosome Disorders
Chromosomes, Human, Pair 2*
Face / abnormalities
Genitalia, Male / abnormalities
Humans
Immunoglobulin kappa-Chains / genetics
Infant, Newborn
Male
Psychomotor Disorders / genetics*
Syndrome
Vitiligo / congenital

Substances

Immunoglobulin kappa-Chains