In this heterogeneous cohort we found monosomy 7 and trisomy 8 in two patients each, all eventually diagnosed as MDS; increased chromosome breakage was observed in three cases then diagnosed as Fanconi anaemia (FA); an isochromosome for the long arms of chromosome 7 was present in one patient with previously undiagnosed Shwachman-Diamond Syndrome; trisomy 8 was found in one patient in whom MPL gene mutations demonstrated a congenital amegacaryotic thrombocytopenia (CAMT, OMIM # 604998) [2]; a translocation t(8;17)(p21;q25) was present in a patient with features of Blackfan-Diamond Anaemia. This evidence concerns the gene MPL and myelodysplastic syndrome.