Cytogenetic results of patients with infertility in middle anatolia, Turkey: do heterochromatin polymorphisms affect fertility?

Introduction: Infertility is a significant multifactorial disorder that can be caused by chromosomal abnormalities. In this study, we aimed to cytogenetically investigate male and female patients admitted to the Genetic Diagnostic Laboratory of Kayseri Educational Hospital in Kayseri, Turkey with varied clinical prediagnoses of infertility.

Materials And Methods: Chromosomes from cultured peripheral blood lymphocytes of 274 patients and 427 individuals as the controls were analyzed using GiemsaTrypsin-Giemsa (GTG) banding.

Are heterochromatin polymorphisms associated with recurrent miscarriage?

Aim: Recurrent miscarriage is a multifactorial problem associated with genetic abnormalities reflected by inherited disorders. The aim of the present study was to investigate the contribution of chromosomal abnormalities and the frequency of a particular type of aberration in couples of Turkish origin with recurrent miscarriages compared with patients without miscarriages.

Methods: A total of 336 patients with recurrent miscarriages and 427 patients without miscarriages were analyzed.

MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study.

Background: Familial Mediterranean fever (FMF) is an autosomal-recessive inherited inflammatory disease caused by mutations in the MEFV gene that encodes pyrin/marenostrin. It is characterized by recurrent short episodes of fever, abdominal pain and serositis affecting mainly Mediterranean and Middle Eastern populations. We determined the frequency of the compound heterozygous mutations which has been rarely reported.

Isolated congenital anonychia cases with coincident chromosomal fragility.

Isolated anonychia without any associated phenotypical disturbances is one of the rarest anomalies of congenital nail disorders. Some or all fingers of the hands or feet could be affected. Anonychia can be encountered in dermatologic disorders like pemphigus, lichen planus, epidermolysis bullosa; it can also be seen as a component of some syndromes like Nail-Patella and Cooks syndromes.