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Literature DB >> 8151644

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

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

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.

Entities: Disease Species

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Year: 1994 PMID： 8151644 PMCID： PMC1049605 DOI： 10.1136/jmg.31.1.72

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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References

16 in total

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

1. Age of onset in vitiligo: relationship with HLA supratypes.

2. Interstitial deletion of chromosome 2 (p23p25).

3. A genetical model for vitiligo.

4. Intrauterine growth of live-born Caucasian infants at sea level: standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation.

5. Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata.

6. Partial 2p deletion in a girl with a complex chromosome rearrangement involving chromosomes 2, 6, 11, and 21.

7. Interstitial deletion (2)(p13p15).

8. Deletion mapping: further evidence for the location of acid phosphatase (ACP1) within 2p23.

9. Deletion of 2p: a cytogenetic and clinical update.

10. Studies on vitiligo. II. Familial aggregation and genetics.