The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3. |
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| Authors: | A Slavotinek E Maher P Gregory P Rowlandson and S M Huson |
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| Institution: | Department of Clinical Genetics, Oxford Radcliffe Hospital, The Churchill, UK. |
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| 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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