zahra hadipour

Khanmirza aquifer is located in Khanmirza plain, south of Lordegan in Chaharmahal and Bakhtiari province. The study area is part of fold Zagrous and is located in south of Dena fault. Field and petrographic studies indicate various geological formations (limestone, dolomite, clay, gypsum, salt, sandstone and igneous rocks) from the Precambrian (Hormoz Formations) to the now. The 16 wells during 3 periods were analysis in 2016-2017, and also datas of periods 15 years to were studied. All data indicate to decreas water quality of the central and east part of the plain. Spatial zoning of hydrochemical parameters indicat geochemical evolution process of Khanmirza aquifer groundwater from calcium bicarbonate type (magnesium) with salinity low concentration in northwestern and southeastern and chloro-sodium type in the central part of the plain. The ion ratios of Khanmirza plain show the dissolution of gypsum and the saline water infiltration in around of the fault and the plain central. Results of heavy element analysis indicat to high concentration As = 0.08 - 0.11, Co = 0.52 - 0.46, Cd = 0.51 - 0.43, Fe = 17.17 - 60.57, Pb= 1.43 - 0.96 up several times the world standard. Tectonic setting and stratigraphic unites of the khanmirza are the most important factor of the groundwater heavy elements pollution. The evaporative formations of Hormoz in the east, and the clay formations and water persistence in the central part of the basin have caused salinity and accumulation of heavy metal in Khanmirza plain.

Major birth defects are inborn structural or functional anomalies with long-term disability and adverse impacts on individuals, families, health-care systems, and societies. Approximately 20% of birth defects are due to chromosomal and genetic conditions. Inspired by the fact that neonatal deaths are caused by birth defects in about 20 and 10% of cases in Iran and worldwide respectively, we conducted the present study to unravel the role of chromosome abnormalities, including microdeletion/microduplication(s), in multiple congenital abnormalities in a number of Iranian patients. In this descriptive cross-sectional study, 50 sporadic patients with Multiple Congenital Anomalies (MCA) were selected. The techniques employed included conventional karyotyping, fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), and array comparative genomic hybridisation (array-CGH), according to the clinical diagnosis for each patient. Chromosomal abnormalities and microdeletion/microduplication(s) were observed in eight out of fifty patients (16%). The abnormalities proved to result from the imbalances in chromosomes 1, 3, 12, and 18 in four of the patients. However, the other four patients were diagnosed to suffer from the known microdeletions of 22q11.21, 16p13.3, 5q35.3, and 7q11.23. In the present study, we report a patient with 46,XY, der(18)[12]/46,XY, der(18), +mar[8] dn presented with MCA associated with hypogammaglobulinemia. Given the patient’s seemingly rare and highly complex chromosomal abnormality and the lack of any concise mechanism presented in the literature to justify the case, we hereby propose a novel mechanism for the formation of both derivative and ring chromosome 18. In addition, we introduce a new 12q abnormality and a novel association of an Xp22.33 duplication with 1q43q44 deletion syndrome. The phenotype analysis of the patients with chromosome abnormality would be beneficial for further phenotype-genotype correlation studies.

Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypotonia. Mutations in the acid alpha-glucosidase (GAA) gene, located at locus 17q25.3, are responsible for the disease leading to reduced activity of the acid alpha-glucosidase enzyme. To date, approximately 400 pathogenic mutations have been reported in the GAA gene. The aim of this study is to report a novel nonsense mutation in exon 4 of the GAA gene in an Iranian child suffering from IOPD. The patient was a female neonate with hypertrophic cardiomyopathy and a positive family history of IOPD. After definite diagnosis, enzyme-replacement therapy (ERT) was started for the patient, who was 2 months old. Now at the age of 20 months, she has had good growth and development and her echocardiographic parameters are within the normal range. This report shows that IOPD patients with this mutation can be treated with ERT successfully.

Triploidy is the most frequent chromosome abnormality in the gestational age. According to the study, survival of more than 2 months in triploid patients is very rare. A 7-year-old girl with mild mental retardation with dysmorphism was referred for genetic counseling and clinical evaluation to Sarem medical genetics department (Tehran, Iran, 2013). Clinical features of the child were mental retardation, prominent upper lip, microgenitalia, prominent forehead, foot fingers syndactyly, and short hypoplastic 5th finger. G banding technique, skin biopsy, and Fluorescence in situ hybridization (FISH) testing were performed. Brain Imaging was evaluated. The karyotype of patient showed triploid (69, XXX) chromosome complement in all the metaphase spreads. However, two cell lines were found in metaphase of cultured cutaneous biopsy. The majority of the cells the body were triploid (69, XXX) and 16% of cells were diploid (46, XX). Findings of the FISH testing using X and Y Satellite enumeration probes in all studied peripheral blood lymphocyte (PBL) cells, included 3 signals and none signal respectively indicating X and Y chromosomes. Also, cultured of cutaneous biopsy finding showed 66% of cells had three signals (triploid) and 34 percent of cells had two signals (diploid) and mosaicism was confirmed. Karyotypes of parents and the brain imaging were normal. This study presents a rare case of triploidy with long survival with normal karyotypes of PBL and mosaicism in skin biopsy and interphase FISH.

The Yunis-Varón syndrome represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles (cleidocranial dysplasia), absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, growth retardation and poor outcome. The molecular genetic basis is unknown. Here, we report an 8 months old girl with Yunis-Varón syndrome, born to a consanguineously married, with normal parents. She had micrognathia, wide fontanels, prominent eyes, poor sucking, congenital heart diseases, asymmetric face, ambiguous genitalia, reduction anomaly in right hand including thumb, and hypo plastic distal phalanges of 3th fingers, and hypo plastic clavicles. She has glaucoma and lenses opacity. There is another similar case in her family. Karyotype is normal. She is the first Iranian known case of Yunis-Varón syndrome.

49,XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis,cryptorchidism and skeletal anomalies. We reported a 10 month-old boy who has hypotonia, microcephaly,hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate,down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (PDA), Atrial septaldefect (ASD), mild pulmonary stenosis. Among the skeletal anomalies, he has kyphoscoliosis, clinodactylyof the fourth and fifth fingers of both hands, and bilateral club foot and unilateral dysplasia of the hip.Karyotype was found as 49,XXXXY[44]/48,XXXY[6] and this cytogenetic analysis was help to establishclinical diagnosis Fraccaro syndrome.

Mental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adaptive functions, with onset before 18 years of age.. The purpose was to determine the results of subtelomeric screening by the Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 selected patients with idiopathic mental retardation (IMR) in Iran.. A number of 100 patients with IMR, normal karyotypes and negative fragile-X and metabolic tests were screened for subtelomeric abnormalities using MLPA technique.. Nine of 100 patients showed subtelomeric abnormalities with at least one of the two MLPA kits. Deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. Duplication was only single and was present in 2 patients. Three patients were found to have both a deletion and duplication.MLPA testing in the parental samples of 7 patients which was accessible showed that 4 patients were de novo, 2 patients had inherited from a clinically normal mother, and one had inherited from a clinically normal father. Screening with the two MLPA kits (SALSA P036 and SALSA P070) proved abnormality in only five of the 9 patients.. So, the prevalence rate of abnormal subtelomeres using MLPA technique in patients with idiopathic MR in our study was 5 - 9%, the higher limit referring to the positive results of one of the two MLPA kits, and the lower limit representing the results of positive double-checking with the two MLPA kits..

Tay-Sachs disease is a rare autosomal recessive disorder of sphingolipid metabolism, caused by deficiency of enzyme ß hexosaminidase A, that leads to accumulation of GM2 ganglioside in cellular lysosomes. Clinical findings are progressive weakness, gradual loss of aquired neuromotor skills, and deterioration of intelligence from about 3 to 6 months of age, as well as seizure attacks and blindness. There is also evidence on progressive neurodegeneration. In most of the patients bilateral cherry red spot were reported on funduscopy. In this report, we present two patients with Tay-Sachs disease, which are confirmed by enzyme assay. In both of them ß hexosaminidase A activity were strongly decreased.

Amniocentesis is a technique for detection of chromosomal abnormalities in the unborn fetuses. The technique is being applied to the all high risk pregnancies, mostly in advanced maternal ages and abnormal results in the 1st or 2nd trimester pregnancies. In current situation, first trimester screening is being done in the 11 to 13 weeks and 6 days of gestation, and mid-trimester screening (between weeks 15 to 20). We report the result of our samples in this article. 261 pregnancies were followed and screened by 1st and 2nd trimester screening by Iranian Fetal Foundation protocols in an 18 months period (from January 2007 to July 2008). Advanced maternal ages (35 years and more), or detected a balanced structural chromosomal abnormalities in one of the parents were indications for amniocentesis in this group. Amniocentesis was performed in the 261 cases during the mentioned period. In all of the culture tubes (100%) cell growth was successful. Mean of the time for screening and reporting the results was 12 days. Twelve affected fetuses (4.6%) were detected. The most common abnormalities were Down’s syndrome and balanced translocation. First and second trimester screening is recommended to all pregnancies by international FMF protocol. Whenever the results showed that the pregnancy is prone to the risk then amniocentesis is highly recommended to detect chromosomal abnormalities.

Herein an Iranian family with two affected offspring with mental retardation and dysmorphic features is being reported. On detailed investigation they have been diagnosed that are suffering from Cat cry syndrome. Because the two children were product of mothers two separate husbands, she was suspected to be balanced carrier for a chromosome abnormality. Chromosome analysis in the mother showed that she is carrier of a balanced translocation between chromosomes 5 and 20. The mother married again, and prenatal diagnosis by amniocentesis had been carried out on her third pregnancy. The fetus was a normal male and now he is about one year old healthy baby.