Tetraploidy in the era of molecular karyotyping – What we need to remember

Tetraploidy is a condition in which there are four complete sets of chromosomes in a single cell. In humans, this would be 92 pairs of chromosomes per cell. A great majority of pregnancies with a tetraploid fetus end in miscarriage, or if the pregnancy goes to full term, the infant dies shortly after birth. Longer surveillance is rarely described. The only method for confirming tetraploidy is karyotyping, in many cases using classical G-banding methods. In this paper we would like to present another living individual with tetraploidy and to revise the syndrome in the light of its diagnostics in the era of molecular karyotyping, with array Comparative Genomic Hybridization (aCGH, arrayCGH).