The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.
- 1 October 1997
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 34 (10) , 857-861
- https://doi.org/10.1136/jmg.34.10.857
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.Keywords
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