Hybrid dysgenesis is a syndrome of germ-line aberrations including, e.g., sterility and mutation, found in certain interstrain hybrids of Drosophila melanogaster. Previous studies of sterility have shown that elements responsible for dysgenesis may reside on all major chromosomes, but that their dysgenesis-causing ability is controlled by an unknown extrachromosomal factor. Dysgenic hybrids als...

A 160 kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated. The region contains the MAGEB genes and the NR0B1 gene; this is the candidate for gonadal dysgenesis if overexpressed. Most patients present gonadal dysgenesis within a more complex phenotype. However, few independent cases have recently been described presenting with isolated XY gon...

We describe a neonate with aneurysmal dilatation of the vein of Galen with arteriovenous fistulous sites located at the superior vermian vein. Helical CT angiography was useful for evaluating the anomalous vessels.

AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...

OBJECTIVE The authors previously reported that men with chronic schizophrenia had a smaller vermian subregion than did healthy men. In this study, they tested whether posterior superior vermis reduction would be seen in a larger group of schizophrenia patients, both male and female. METHOD Brain volumetric analyses were performed with magnetic resonance imaging (MRI) in 59 male and female pat...

Background. Recent data have suggested that polymorphisms in the length of the polyalanine tract (polyA) of FOXE1 gene may act as a susceptibility factor for thyroid dysgenesis. The main purpose of this study was to investigate the influence of polyA of FOXE1 gene on the risk of thyroid dysgenesis. Method. A case-control study was conducted in a sample of 90 Brazilian patients with thyroid dysg...

ase—A 30-year-old woman, gravida 1, presents at 32 weeks for sonography to assess fetal growth. She is otherwise healthy, and her pregnancy has been uncomplicated. Her 18-week anatomy scan results were normal. Her serum screen for aneuploidy was low risk. On this sonographic examination, the fetus is found to have normal growth and fluid. The anatomic survey results are normal aside from a cist...