Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report
Open Access
- 23 June 2014
- journal article
- case report
- Published by Palacky University Olomouc in Biomedical Papers
- Vol. 158 (2), 321-325
- https://doi.org/10.5507/bp.2013.077
Abstract
Aims: Trisomy of chromosome 21 is associated with Down syndrome (DS) - the commonest genetic cause of mental retardation. We report two unusual cases with partial trisomy of chromosome 21 and tetrasomy of chromosome 21 without DS phenotype. We ...Keywords
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