The Use of Fluorescence Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome.

Background: Turner syndrome (TS) is the most common chromosomal abnormality in females. The diagnosis of TS is based on karyotyping of 30 blood lymphocytes. This technique does not rule out tissue mosaicism or low-grade mosaicism in the blood.

The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos.

Purpose: The aim of this study is to evaluate the effect of abnormal semen morphology on the frequency of sex chromosomal abnormalities in embryos obtained by ICSI, which represents the first to be studied in Egyptian population.

Methods: Forty-two couples suffering from male infertility due to teratozoospermia were divided into two groups: patients with severe and moderate teratozoospermia (group A and B, respectively). All involved couples were subjected to careful history taking and had a normal clinical examination and karyotype.

Chromosomal Aberrations in 224 Couples with Recurrent Pregnancy Loss.

Background: 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 of early miscarriage accounting for 50%-60% of first trimester abortion.

Aim: To estimate the prevalence and nature of chromosomal anomalies in couples with recurrent miscarriage.

The Association Between Interleukin 1 Beta Promoter Polymorphisms And Keratoconus Incidence And Severity In An Egyptian Population.

Purpose: In the present study, we investigated whether interleukin 1 beta ( promoter polymorphisms are associated with keratoconus in an Egyptian population and their association with disease severity.

Methods: A total of 95 Egyptian keratoconus patients and 126 Egyptian healthy controls were enrolled in the study. Two single nucleotide polymorphisms (SNPs) (rs1143627 and rs16944) were genotyped using Taqman real-time PCR to compare haplotype, genotype, and allele frequencies between cases and controls (primary outcome) and their association with disease severity (secondary outcome).