De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 8151644.
- Also identified by PMC identifier 1049605.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosome Deletion
- Chromosomes, Human, Pair 2
- Psychomotor Disorders