BACKGROUND Male infertility is responsible for 50% of infertile couples. Thirty percent of male infertility is due to cytogenetic and genetic abnormalities. In Arab and North African populations, several studies have shown the association of these chromosomal abnormalities with male infertility. Our objective is to evaluate the frequency of chromosomal abnormalities and Y chromosome microdeleti...

background: in algeria, the data on infertility and its various causes are rare. recently, the introduction of assisted reproduction has allowed expecting that 300000 couples, which represent 7% of couples of reproductive age, face difficulty conceiving a child. knowing that most idiopathic cases are likely to be due to chromosomal abnormalities, we aimed to investigate genetic defects by karyo...

Introduction: Myocardial noncompaction is thought to be a rare genetic disorder of myocardial morphogenesis. Case Report: We report the case of a 22­year­old male with left ventricular noncompaction, bicuspid aortic valve and ascending aortic dilation. We discuss the genetic basis of myocardial noncompaction and potential etiologies that manifest in hyper­ trabeculated myocardium in the presenc...

we have analysed data from 150 patients initially classified as having cvid. about 10% had laboratory abnormalities suggesting known single gene disorders (eg: hyper-igm syndrome), and in a few a genetic defect has been confirmed. we have attempted to sub-classify the remaining patients by analysis of their circulating lymphocytes. b lymphocyte markers have been used to estimate the numbers of ...

Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic ultrasonography is also widely used and can help increase detection rates. To date, many soft markers, including choroid plexus cysts, echogenic intracardiac foci, mild ...

Recurrent spontaneous abortions (RSAs) occur in approximately 15 to 20% of all clinically recognizable pregnancies. Structural chromosome abnormalities result in increased risk of pregnancy loss. Parental chromosomal abnormalities are an important genetic cause of RSAs. Some cytogenetic investigations have been performed in various countries and regions to determine the pattern of chromosomal a...

ulcerative colitis is an acute or chronic inflammatory bowel disease that diffusely involves the colonic mucosa. the etiology of ulcerative colitis is unknown. the involvement of genetic factors in ulcerative colitis is suggested by some reports of familial occurence anil the immune abnormalities found in patients and their unaffected female relatives. a number of disease with unknown etiology,...

Multiple myeloma (MM) is a plasma-cell malignancy characterized by marked epidemiological, biological, and clinical heterogeneity. The goal of this study was to find a genetic basis for this heterogeneity. Using fluorescence in situ hybridization, we analyzed a prospective cohort of 901 patients with various plasma-cell disorders--monoclonal gammopathies of undetermined significance, smoldering...

background: the studies have indicated that inter marriage would increases the frequency of congenital disabilities compared with non-inter marriages. it seems that in our country inter marriage is one of the most important factors for disabilities in infants. this research was conducted to compare the relative frequency of congenital disabilities with type of marriage in jiroft city, which has...

objective: chromosomal aberrations are common causes of multiple anomaly syndromes. recurrent chromosomal aberrations have been identified by conventional cytogenetic methods used widely as one of the most important clinical diagnostic techniques. materials and methods: in this retrospective study, the incidences of chromosomal aberrations were evaluated in a six year period from 2005 to 2011 i...