Cerebral cortical dysgenesis has been found by magnetic resonance imaging to be the second most common pathology underlying medically refractory chronic partial epilepsy. Patients with the latter condition form the largest group in specialist epilepsy clinics. The pathogenesis of the epilepsy in cortical dysgenesis remains largely obscure. The most popular current hypothesis holds neuronal misc...

During human embryogenesis, neural crest cells migrate to the anterior chamber of the eye and then differentiate into the inner layers of the cornea, the iridocorneal angle, and the anterior portion of the iris. When proper development does not occur, this causes iridocorneal angle dysgenesis and intraocular pressure (IOP) elevation, which ultimately results in developmental glaucoma. Here, we ...

Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth and can result in severe neurodevelopmental impairment, growth failure and permanent mental retardation if treatment is delayed for several months after birth (1-3). Girls are more frequently affected than boys (female to male ratios ranging from 2:1 to 4:1)(4). The mental retardation and neurodevelopme...

A non-fluorescent Y chromosome was observed in a phenotypic male with 45,X/46,XYq-mosaicism and mixed gonadal dysgenesis. Q-banding of the father's chromosomes showed a normally fluorescent Y. Measurements of the Y chromosomes in the father and the patient showed a significant difference in length. Evidence for translocation of the Y fluorescent segment to another chromosome was lacking in the ...

Strains of Drosophila melanogaster bearing the male recombination factor 23.5 MRF induce hybrid dysgenesis in a way which is highly reminiscent of the P-M system, and, most probably, causally related to the activity of the transposable element hobo. We have investigated potential interactions between the two systems of hybrid dysgenesis by studying mixed lines derived from bidirectional crosses...

Abstract Background Much interest has not been placed on the role of chromosomal abnormalities in pathogenesis and rising prevalence infertility recent times. This review was conducted to renew public basis infertility, testing, management. Main text Meiotic post-zygotic mitotic errors may cause infertility-predisposing abnormalities, including Klinefelter syndrome, Jacob Triple X Turner Down s...