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Case Reports
. 1997 Oct;34(10):857-61.
doi: 10.1136/jmg.34.10.857.

The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3

A Slavotinek  1 , E Maher, P Gregory, P Rowlandson, S M Huson
Affiliations
Case Reports

The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3

A Slavotinek et al. J Med Genet. 1997 Oct.

Abstract

We report a family in which the proband has a direct insertion of band 7q21.3 into chromosome 22 at 22q13.3, karyotype 46,XX,dir ins(22;7)(q13.3;q21.2q22.1). Two of her children have unbalanced chromosome rearrangements involving 7q21.3, with one girl monosomic for the region and a boy trisomic for the region. The child monosomic for band 7q21.3 has a split hand/split foot (SHSF) anomaly and her clinical features are consistent with the 7q21-q22 contiguous gene deletion syndrome. In situ hybridisation studies have shown that the proband and her son have a submicroscopic deletion of chromosome band 22q13.3. Interstitial deletions of this chromosome band have rarely been reported.

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References

    1. J Med Genet. 1988 Nov;25(11):780 - PubMed
    1. Am J Med Genet. 1989 Feb;32(2):192-4 - PubMed
    1. Am J Med Genet. 1990 Jan;35(1):95-9 - PubMed
    1. J Med Genet. 1990 Sep;27(9):588-9 - PubMed
    1. Am J Med Genet. 1991 Jun 15;39(4):413-4 - PubMed

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