epilepsy is one of the most common neurological disorders. studies have demonstrated that genetic factors have a strong role in etiology of epilepsy. mutations in genes encoding ion channels, neurotransmitters and other proteins involved in the neuronal biology have been recognized in different types of this disease. moreover, some chromosomal aberration including ring chromosomes will result i...

early identification of fetuses with chromosomal abnormalities enables health care providers to form an appropriate management plan for each patient. the main objective of this study was to determine the role of ultrasonography in screening and identifying fetuses at risk for chromosomal abnormalities. a retrospective review of 6480 patients from the obstetrics and gynecology ward of firouzgar ...

the interpretation of supernumerary chromosome is important for genetic counseling and prognosis. here, we used snp array and conventional karyotyping method to identify a denovo marker chromosome originated from chromosome 22 and 11 in a newborn transferred to the neonatal intensive care unit of shahid sadoughi hospital in 2015.  clinical abnormalities identified in the newborn were dysmorphic...

Background and Objectives: Congenital anomalies are also known as birth defects and congenital disorders. Congenital anomalies occur in about 3-7% of the newborn babies worldwide. The purpose of this study was to determine the incidence of congenital anomalies and their determinants in hospitals affiliated with Isfahan University of Medical Sciences in 1395. Methods: This cross-sectional stu...

background: wide range of disorders ranging from genetic disorders to coital difficulties can influence male fertility. in this regard, genetic factors are highlighted as the most frequent, contributed to 10-15%, of male infertility causes. objective: to investigate the influence of genetic abnormalities on semen quality and reproductive hormone levels of infertile men from northeast china. mat...

Background Cytogenetic study of reproductive wastage is an important aspect in determining the genetic background of early embryogenesis. Approximately 15 to 20% of all pregnancies in humans are terminated as recurrent spontaneous abortions (RSAs). The aim of this study was to detect chromosome abnormalities in couples with RSAs and to compare our results with those reported previously. Materia...