Visual examination, without instruments, of the eye allows inspection of the iris, sclera, cornea and, through the iris, some abnormalities of the lens and retina. Several hereditary disorders can easily be recognised by characteristic iris changes. This review discusses changes in the iris, visible lens anomalies, and changes in the cornea surrounding the iris. A genetic diagnosis can help wit...

Over the past two decades, numerous suits for damages have been brought against physicians for the injury of wrongful life, or wrongful birth. Within the past 5 years, several precedents have been set that broaden the physician's legal obligation to recognize and act upon foreseeable or potentially recurrent genetic, teratogenic, or chromosomal disorders. These precedents may be expected to aff...

The main factor determining differentiation of bipotential gonads into testes or ovaries is the presence absence SRY (sex-determining region on Y chromosome) gene. De la Chapelle syndrome a chromosomal anomaly with makeup female (46, XX) and phenotypic presentation male. Previously known as XX sex reversal, it now called 46, testicular disorders sexual development (DSD). Although rare, presents...

Down syndrome [DS] is the most common chromosomal disorder in population manifested by intellectual disabilities of varying degrees, often accompanied disorders organ systems. Compared to children without DS, these have a greater risk developing malignancy such as acute leukemia. Leukemia blood cells and lymph nodes form cancer children. Its treatment with DS more complex compared this syndrome...

in this study, chromosome analyses were performed on 70 infertile azoospermic and oligospermic (<20 million/ml) men, and also cultures of peripheral blood lymphocytes by high resolution banding method were analysed as well. it is revealed 8 (11.43 percent) men with chromosomal abnormality. there were 31.4 percent patients with azoospermia and 68.6 percent with oligospermia from several thousand...

The increased risk of cancer in patients with type 2 diabetes mellitus substantiates the relevance scientific researches on mechanisms association these diseases. It was found that pathogenetic factors cause disorders at level signaling pathways control processes intracellular metabolism and survival. Obesity significantly increases risk. procarcinogenic effect obesity is due to a combination m...

Abstract Objectives The aim of this study was to determine the chromosomal abnormalities and other adverse outcomes like miscarriages, intrauterine deaths, structural defects, genetic syndromes in fetuses with increased nuchal translucency (NT) more than or equal 95th centile. This also compared NT between 99th centile Study Design A prospective cohort 182 patients isolated evaluated by invasiv...

chromosomal abnormalities are major causes of infertility, miscarriage and birth of handicapped progeny. in human live births, the prevalence of a chromosome aberration is ?0.5% and, of these, 0.1–0.3% correspond to structural chromosome rearrangements such as translocations, inversions, insertions and deletions .our proband is an infant who had died 4 hours after birth due to a variety of abno...