Konstantinos A. Economou, Chrysanthi Bili, Lina Florentin, Fotios Thymis, Dimitrios Papanicolaou
Preimplantation genetic testing for monogenic/single-gene defects (PGT-M) is a well established tool in assisted reproduction. A couple, where the male was a carrier of the c.709C>T (p.Arg237Trp) pathogenic variant (autosomal dominant) of the exon 7 of TBX5 gene causing Holt-Oram syndrome (HOS) attended our clinic for PGT-M. The father and their first baby boy …