Three of the seven variants found in the RECQL4 gene, c.2161C>T and p.Arg721Ter, c.2269C>T and p.Gln757Ter, and c.2547_2548del and p.(Phe850Profs*33), had been previously described in the recessive syndromes associated to the gene [38,39]. This evidence concerns the gene RECQL4 and Down syndrome.