P strains of Drosophila are distinguished from M strains by having P elements in their genomes and also by having the P cytotype, a maternally inherited condition that strongly represses P-element-induced hybrid dysgenesis. The P cytotype is associated with P elements inserted near the left telomere of the X chromosome. Repression by the telomeric P elements TP5 and TP6 is significantly enhance...

Cortical dysgenesis is increasingly recognised as a cause of epilepsy. We report a case with double cortex heterotopia and secondarily generalized seizures with a generalised spike wave pattern. During the course of the disease, the child developed electrical status epilepticus in slow wave sleep. From the first examination, sleep pattern revealed increased frequency and amplitude of spindle ac...

OBJECTIVES/HYPOTHESIS We describe management of an infant with chronic aspiration as a result of severe and rarely described laryngeal dysgenesis. RESULTS A neonate with severe maldevelopment of the laryngeal structures required tracheostomy for respiratory distress on day-of-life 1, but the patient continued to have aspiration pneumonias. After failing to improve with conservative measures, ...

Objective To report a rare successful pregnancy after fertility treatment in a patient with Swyer syndrome. Design Case report. Setting Herts & Essex Fertility Centre, Cheshunt, UK. Patients A 36-year-old patient with 46, XY gonadal dysgenesis. 31 year old husband with normal sperm analysis. Interventions Chromosomal analysis, Saline infusion sonography, Pipelle endometrial scratch, ICS...