Abstract Purpose Mutations in the bicoid‐like transcription factor PITX 2 gene often result Axenfeld‐Rieger syndrome ( ARS ), an autosomal‐dominant inherited disorder. We report here discovery and characterization of novel deletions a small kindred with . Methods Two familial patients (father son) from consanguineous family were examined present study. Patient DNA samples screened for mutations by sequencing copy number variation SYBR Green quantitative polymerase chain reaction (PCR)...

Abstract VLDLR cerebellar hypoplasia is characterized by intellectual disability, non-progressive ataxia, and seizures. The characteristic MRI findings include of the inferior portion vermis hemispheres, simplified cortical gyration, a small brain stem. Biallelic pathogenic variants cause loss-of-function encoded very low-density lipoprotein receptor. exons 4 16 are alternatively spliced, resulting in expression four transcript variants, including two exon 4-lacking mRNAs expressed human...

In the present study, we investigated whether interleukin 1 beta (IL1B) promoter polymorphisms are associated with keratoconus in an Egyptian population and their association disease severity.A total of 95 patients 126 healthy controls were enrolled study. Two IL1B single nucleotide (SNPs) (rs1143627 rs16944) genotyped using Taqman real-time PCR to compare haplotype, genotype, allele frequencies between cases (primary outcome) severity (secondary outcome).Statistically significant was...

Recurrent pregnancy loss (RPL) is a major reproductive health issue, affecting 2%-5% of couples. Genetic factors, mainly chromosomal abnormalities, are the most common cause early miscarriage accounting for 50%-60% first trimester abortion.To estimate prevalence and nature anomalies in couples with recurrent miscarriage.This study included 224 history 2 or more abortions. Both partners were karyotyped as part primary investigation. Cytogenetic analysis was carried out using standard method.A...

The aim of this study is to evaluate the effect abnormal semen morphology on frequency sex chromosomal abnormalities in embryos obtained by ICSI, which represents first be studied Egyptian population.Forty-two couples suffering from male infertility due teratozoospermia were divided into two groups: patients with severe and moderate (group A B, respectively). All involved subjected careful history taking had a normal clinical examination karyotype. Females hormonal assays, pelvic ultrasound,...

Abstract Background Male infertility is a major health problem with multi-factorial etiology. Intracytoplasmic sperm injection (ICSI) has revolutionized the treatment of men severely compromised semen parameters and improved their chances achieving pregnancy. However, many concerns have been raised about ICSI safety; in part owing to utilizing aneuploid sperms from infertile men, which may be associated an increased incidence chromosomal aneuploidies pregnancies. The aim study was determine...

We report the clinical and genetic characterization of 2 cousins sharing same chromosomal anomaly; a 22pter-q11.2 deletion 14pter-q13 duplication due to an unusual familial reciprocal non robertsonian translocation between acrocentric chromosomes t(14;22)(q13;q11.2), mother patient 1 was first cousin father 2. Fluorescent in situ hybridization confirmed cytogenetic results. The patients showed dysmorphic features developmental delay with evident intrafamilial phenotypic variability....

Abstract Background: Turner syndrome (TS) is the most common chromosomal abnormality in females. The diagnosis of TS based on karyotyping 30 blood lymphocytes. This technique does not rule out tissue mosaicism or low-grade blood. Because associated risk gonadoblastoma, especially important case this involves a Y chromosome. Aims: study was set to determine value additional genetic studies such as fluorescent situ hybridisation and inclusion buccal cells search for patients. Settings Design:...

Abstract Background Recent research proposed an association between functional defects involving CHEK2 I157T and SULT1A1 R213H variants increased incidence of several types cancer. A total 86 unrelated colorectal cancer patients attending the Surgical Oncology Department were recruited in study. The second group 152 healthy age- sex-matched volunteers included as controls. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was applied for genotyping. Chi-square...

Abstract Background Premature ovarian failure (POF) is a complex heterogeneous disorder characterized by the triad of amenorrhea, hypergonadotropinism, and hypoestrogenism in women before expected age menopause. In most POF patients, etiology idiopathic. X chromosome abnormalities are known to be responsible for many cases but effect sex low level mosaicism on function still remains unclear. The aim this study was investigate prevalence type cytogenetic as well low-level Egyptian females...