Objectives: The study aimed to assess the frequency and type of abnormal karyotype in Khuzestan, Iran by amniocentesis before 22 weeks of gestation. Methods: We conducted a retrospective analysis of 1197 amniotic fluid specimens in Khuzestan province, before 22 weeks gestations for fetal karyotyping. Results: The incidence of abnormal aneuploidies was 4. 9% (59 of 1197) for all specimens. The highest CHROMOSOMAL abnormality was Down syndrome (64. 4%). Conclusions: The rate of CHROMOSOMAL abnormalities was higher than other reports from Iran and all over the world. The detection rate of Down syndrome similar to other reports remains high.

Background: The aim of this study was to investigate the prevalence of congenital heart DEFECTS in children with Down's syndrome in Imam Khomeini Hospital in a period of 2 years (2001-2002).Methods: Based on their medical files and echocardiographies, 32 patients with Down’s syndrome were evaluated during study. Findings: The cytogenetic analysis in these patients (19 males and 13 females) revealed that 29 cases (90.7%) had trisomy 21, 2 cases (6.2%) had translocation and only one case (3.1%) was mosaic. Family history for heart diseases was positive in 2 patients (6.2%). The findings of echocardiography were as follow: endocardial cushion defect (ECD) in 16 cases (50%), ventricular septal defect (VSD) in 7 cases (21.8%), atrial septal defect (ASD) in 6 cases (18.7%), tetralogy of Fallot (TOF) in 2 cases (6.2%), patent ductus arteriousus (PDA) in one case (3.1%).Conclusions: The diagnosis of congenital heart DEFECTS in children with Down’s syndrome is crucial because treating them in due course results in dramatical decrease in the mortality and morbidity rates of these patients.

no absteract

Objective: We present 20-days old boy with congenital heart DEFECTS, partial syndactyly and mild facial anomalies including thin upper lip and high arched eyebrows. CHROMOSOMAL analysis revealed an extra CHROMOSOMAL material on the long arm of one chromosome 5, resulting in 46, XY, dup (5) (q22q31. 3). We compare the clinical characteristic of our patient with those of the previously reported cases with 5q duplication in an attempt to define the phenotype-genotype correlation. Introduction: Partial duplication of long arm of chromosome 5, based on the length and the loci can lead to different clinical problems and phenotypic features. These include congenital heart DEFECTS, growth and developmental delay, facial anomalies, psychomotor retardation, syndactyly and brachydactyly. To our knowledge, twelve patients have so far been reported with the duplication of long arm of one chromosome 5. Patient information: The patient is a 20-days-old boy and the only child. He was born at 37+ 0 weeks of gestation after an uneventful pregnancy. His weight at birth was 2570 grams and height was 45 centimetres. His mother was 26 years old and had no history of abortion. She does not have any familial relationship with her husband. Both his parents have normal karyotype. Conclusion: Cytogenetic investigation in patients with congenital heart DEFECTS is of great value and is highly recommended.

Background: Selecting the best embryo for transfer, with the highest chance of achieving a vital pregnancy, is a major goal in current in vitro fertilization (IVF) technology. The high rate of embryonic developmental arrest during IVF treatment is one of the limitations in achieving this goal. CHROMOSOMAL abnormalities are possibly linked with CHROMOSOMAL arrest and selection against abnormal fertilization products. The objective of this study was to evaluate the frequency and type of CHROMOSOMAL abnormalities in preimplantation embryos with developmental arrest.Materials and Methods: This cohort study included blastomeres of embryos with early developmental arrest that were biopsied and analyzed by fluorescence in-situ hybridization (FISH) with probes for chromosomes 13, 16, 18, 21 and 22. Forty-five couples undergoing IVF treatment were included, and 119 arrested embryos were biopsied. All probes were obtained from the Kinderwunsch Zentrum, Linz, Austria, between August 2009 and August 2011.Results: Of these embryos, 31.6% were normal for all chromosomes tested, and 68.4% were abnormal. Eleven embryos were uniformly aneuploid, 20 were polyploid, 3 were haploid, 11 displayed mosaicism and 22 embryos exhibited chaotic CHROMOSOMAL complement. Conclusion: Nearly 70% of arrested embryos exhibit CHROMOSOMAL errors, making CHROMOSOMAL abnormalities a major cause of embryonic arrest and may be a further explanation for the high developmental failure rates during culture of the embryos in the IVF setting.

Background: CHROMOSOMAL abnormalities and Y chromosome microdeletions are regarded as two most frequent genetic causes associated with failure of spermatogenesis in the Caucasian population.Materials and Methods: To investigate the distribution of genetic DEFECTS in the Romanian population with azoospermia or severe oligozoospermia, karyotype analysis by G-banding was carried out in 850 idiopathic infertile men and in 49 fertile men with one or more children. Screening for microdeletions in the azoospermia factor (AZF) region of Y chromosome was performed by multiplex polymerase chain reaction (PCR) on a group of 67 patients with no detectable CHROMOSOMAL abnormality. The results of the two groups were compared by a two-tailed Fisher’s exact test.Results: In our study CHROMOSOMAL abnormalities were observed in 12.70% and 8.16% of infertile and fertile individuals respectively.Conclusion: Our data suggests that infertile men with severe azoospermia have higher incidences of genetic DEFECTS than fertile men and also patients from any other group. Infertile men with normal sperm present a higher rate of polymorphic variants. It is important to know whether there is a genetic cause of male infertility before patients are subjected to intracytoplasmic sperm injection (ICSI) or testicular sperm extraction (TESE) /ICSI treatment.