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Molecular studies of DiGeorge syndrome.

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  • 1. Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia.
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    • Fibison WJ 1
    (1 author)

American Journal of Human Genetics, 01 May 1990, 46(5):888-895
PMID: 2339689 PMCID: PMC1683603

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Abstract 

DiGeorge Syndrome (DGS) is often associated with loss of a portion of the proximal long arm of chromosome 22. Using a probe for the D22S9 locus, we have examined DNA from eight DGS cell lines and from one balanced-translocation carrier parent of a DGS proband. The D22S9 locus is deleted in four DGS patients, with deletion of 22pter----q11 because of unbalanced translocation. The locus is not deleted from three DGS probands with normal chromosomes or from two DGS probands with interstitial deletions of 22q11. The interstitial deletion DGS probands are also heterozygous for D22S43, another proximal 22q11 locus. This suggests that D22S9 and D22S43 are in a flanking but not critical region for DGS. One of the interstitial deletion DGS probands is monosomic for BCRL2 but has two copies of the flanking BCRL4 and BCR loci. Thus, the region critical to DGS (DGCR) may be in proximity to the BCRL2 locus.

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Logo of ajhgGuide for AuthorsAbout this journalExplore this journalAmerican Journal of Human Genetics
Am J Hum Genet. 1990 May; 46(5): 888–895.
PMCID: PMC1683603
PMID: 2339689

Molecular studies of DiGeorge syndrome.

W J Fibison, M Budarf, H McDermid, F Greenberg, and B S Emanuel
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Abstract

DiGeorge Syndrome (DGS) is often associated with loss of a portion of the proximal long arm of chromosome 22. Using a probe for the D22S9 locus, we have examined DNA from eight DGS cell lines and from one balanced-translocation carrier parent of a DGS proband. The D22S9 locus is deleted in four DGS patients, with deletion of 22pter----q11 because of unbalanced translocation. The locus is not deleted from three DGS probands with normal chromosomes or from two DGS probands with interstitial deletions of 22q11. The interstitial deletion DGS probands are also heterozygous for D22S43, another proximal 22q11 locus. This suggests that D22S9 and D22S43 are in a flanking but not critical region for DGS. One of the interstitial deletion DGS probands is monosomic for BCRL2 but has two copies of the flanking BCRL4 and BCR loci. Thus, the region critical to DGS (DGCR) may be in proximity to the BCRL2 locus.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
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