Practical Human Cytogenetics

Prenatal Diagnosis, Sampling of Chorionic Villi

Prenatal diagnosis with application of the Amniotic fluid (Amniocentesis: AC) and chorionic villi sampling {CVS) is a general aspect of application in Human Genetics which facilitate the diagnosis of different Genetic defects, enclosing chromosomal abnormalities and Genosomopathies. Diagnosis of Genetic defects for AC and CVS is between 16-20th and 8-12th weeks of gestation respectively. Allica...

Blastic Plasmacytoid Dendritic Cell Neoplasm; A Report of Three Cases

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematodermic myeloid malignancy that is known to be derived from plasmacytoid dendritic cells which are characterized by expression of CD4, CD56, and more specific markers such as CD123. Here, the authors present three cases of BPDCN diagnosed in the past two years and address different available diagnostic modalities such as morpho...

Cytoplasmic Her2/neu immunohistochemical staining in breast cancer; From a molecular point of view

Polycythemia vera: analysis of DNA from blood granulocytes using comparative genomic hybridization.

BACKGROUND AND OBJECTIVES The diagnosis of polycythemia vera (PV) is supported by the finding of an abnormal karyotype in patients with erythrocytosis. However, most PV patients have normal marrow cytogenetics at presentation and there is reluctance to use this test routinely. Comparative genomic hybridization (CGH) is a cytogenetic screening technique that analyzes interphase cells. This appro...

Prenatal Diagnosis of Triploidy in Fetus with Unexpected Chromosomal Translocation of Maternal Origin

Triploidy is a lethal chromosomal abnormality. Foetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth...