Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic ultrasonography is also widely used and can help increase detection rates. To date, many soft markers, including choroid plexus cysts, echogenic intracardiac foci, mild ...

The soybean variety Forrest contains an aberrant allele for the Gy3 glycinin gene. The aberrant allele is designated gy3 because mRNA for the G3 glycinin subunit is reduced to below detectable amounts in the seed. Molecular and genetic characterization of gy3 show it to be associated with a chromosomal rearrangement that causes the 5' halves and 3' halves of the gene to become separated from on...

Yeast species have undergone extensive genome reorganization in their evolutionary history, including variations in chromosome number and large chromosomal rearrangements, such as translocations. To determine directly the contribution of chromosomal translocations to the whole organism's fitness, we devised a strategy to construct in Saccharomyces cerevisiae collinear "evolutionary mimics" of o...

Abstract Background Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of fetuses with is still unknown. This study aimed to evaluate genetic and clinical value chromosomal abnormalities copy number variations (CNVs) in markers. Methods Among 1131 fetuses, 729 had single marker, 322 two markers, 80 three or more All underwent conventional karyotyping,...

Histone deposition proteins CAF-1 and Asf-1 impact multiple aspects of chromosome formation and are essential in yeast to prevent DNA damage and avoid chromosomal rearrangement. Using fractionated yeast cell extracts, this MQP attempted to identify stimulatory factors which are necessary and sufficient for histone deposition by CAF-1 and/or Asf1. Identification of these cofactors, would provide...

OBJECTIVES To examine the prevalence of alobar holoprosencephaly, exomphalos, megacystis and nuchal translucency thickness (NT) ≥ 3.5 mm, the incidence and types of chromosomal abnormalities associated with these conditions and their overall impact on the rate of invasive testing and performance of screening at 11-14 weeks. METHODS This was a prospective screening study for trisomies 21, 18 a...

To determine the frequency of chromosomal abnormalities in a child psychiatric population, and to evaluate possible associations between types of abnormalities and patient's clinical characteristics, cytogenetic examination was performed on 604 patients. Demographic data, reasons for karyotyping, clinical signs, and other patient characteristics were assessed and correlated with the results fro...