DE-NOVO DELETION (2) (P11.2P13) - CLINICAL, CYTOGENETIC, AND IMMUNOLOGICAL DATA

Authors
LOS FJ VANHEMEL JO JACOBS HJJ DROP SLS VANDONGEN JJM
Citation
Fj. Los et al., DE-NOVO DELETION (2) (P11.2P13) - CLINICAL, CYTOGENETIC, AND IMMUNOLOGICAL DATA, Journal of Medical Genetics, 31(1), 1994, pp. 72-73
Citations number
18
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
31
Issue
1
Year of publication
1994
Pages
72 - 73
Database
ISI
SICI code
0022-2593(1994)31:1<72:DD((-C>2.0.ZU;2-A
Abstract
We report a case of a boy with a de novo interstitial deletion of chro mosome (2) (p11.2p13). Clinical features included dysmorphism of the f ace, 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.