De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data.
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.
Los
F J
FJ
Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.
Van Hemel
J O
JO
Jacobs
H J
HJ
Drop
S L
SL
van Dongen
J J
JJ
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
D007145:Immunoglobulin kappa-Chains