with significant improve in health-care and treatment of infectious diseases, genetic disorders have created a new era of notification. changes in social attitude towards family life and tendency of parents for limited number of children, sense of responsibility of parents for mental and physical healthiness of children along with their education, needed a new strategy. since most genetic disor...

objective: in this study, the possibility of prenatal diagnosis of down syndrome with real-time pcr method was evaluated. in this context, optimization of a suitable method for purification of high quality dna from amniotic fluid samples was also considered. materials and methods: pregnant women who had the high risk of having babies with down syndrome were selected according to the biochemica...

background: thalassemia is the most common monogenic disease in south-east of iran. despite the 70% reduction in iranian thalassemia cases after thalassemia control comprehensive program, 601 affected babies were born in sistan and balouchistan province, iran from 2002 to 2010, so this study aims at investigating the causes of new thalassemia cases. methods: data from this retrospective cross-s...

background: hemoglobinopathy and thalassemia are prevalent genetic disorders throughout the world. beta thalassemia is one of these disorders with high prevalence in iran, especially in khuzestan province. in this study, the rate of different mutations in β-globin gene for prenatal diagnosis in fetal samples was evaluated. materials and methods: in this experimental pilot study, 316 fetal sampl...

nuchal translucency (nt) measurements in the first trimester screening between 11 and 14 weeks’ gestation are regarded as a clear marker for aneuploidies. the presence of a thickened nt, even if the karyotype is normal, can be associated with structural abnormalities. having an abnormal screening of nt, parents and physicians could face dilemma over abortion particularly in a case of ivf/icsi f...

objective: classic cell culture and karyotyping is routinely used for prenatal detection of different chromosomal abnormalities. molecular cytogenetic techniques have also recently been developed and used for this purpose. quantitative florescence pcr using short tandem repeat (str) markers has more potential for high throughput diagnosis. marker heterozygosity in short tandem repeats (str) is ...

this case report presents a coincidence of trisomy 18 and balanced robertsonian translocation (13;14). aneuploidy was suspected based on anomalies detected in ultrasound scan and confirmed with karyotype. in a 31 years-old healthy woman with a history of one miscarriage, second trimester ultrasound scan reported iugr (<3rd percentile) with normal amniotic fluid, bilateral choroid plexus cysts, ...

how to cite this article: boroujerdi r, shariati m, naddafnia h, rezaei h. small duplication of hprt 1 gene may be causative for lesh- nyhan disease in iranian patients. iran j child neurol. 2015 winter;9(1):103-106. abstract deficiency of hypoxanthine-guanine phosphoribosyltransferase (hgprt) is a rare inborn error of purine metabolism and is characterized by uric acid overproduction along wit...

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background: free fetal dna (ffd) in maternal plasma/serum has increasingly become the source of fetal material for diagnostic purposes in recent years. this source of fetal material can be used for sex determination. rh typing paternally inherited sequences and compound heterozygosity. reports on the lack of consistent pcr amplification of y-chromosome sequences of ffd in maternal plasma/serum ...