A case of primary myelofibrosis was identified with a previously unreported complex karyotype with two abnormal clones in addition to a proportion of normal cells: 46,XY, 2, 1 1, + der(2)t(2; 1) (q24/31;q13), + mar and 45,XY, 2, 1 1, + der(2)t(2;1 1)(q24/31;q13), + mar, 17,del(7q). Study of circulating committed progenitors from this patient consistently showed (1) an absence of erythroid proge...

Background/aim The chromosome translocation t(8;19)(p11;q13) has been reported in only six acute myeloid leukemia (AML) patients. We here present the genetic and clinical features of seventh AML case with this aberration. Materials methods Cytogenetic molecular investigations were performed on leukemic bone marrow cells from a patient therapy-related AML. Results A was found leading to an in-fr...

Prader-Willi Syndrome (PWS) is a complex, neurogenetic, multisystem disorder with prevalence of 1:15000 to 1:30000, caused by lack expression genes in the paternally inherited chromosome 15q 11.2-q13. In this report we aim characterize and increase awareness kyphoscoliosis these children.