Latest Cytogenetics Stories
A genetics research team based at The Children's Hospital of Philadelphia continues to discover recurrent translocations"”places in which two chromosomes exchange pieces of themselves. As many as 1 in 600 persons carry balanced chromosome translocations, which involve no loss or gain of DNA. Most such people appear healthy, but may have a child with abnormal chromosome composition and disabilities resulting from disrupted, extra or missing copies of genes.While rare, such diseases originate...
PHILADELPHIA, July 29 /PRNewswire-USNewswire/ --A genetics research team based at The Children's Hospital of Philadelphia continues to discover recurrent translocations--places in which two chromosomes exchange pieces of themselves. As many as 1 in 600 persons carry balanced chromosome translocations, which involve no loss or gain of DNA. Most such people appear healthy, but may have a child with abnormal chromosome composition and disabilities resulting from disrupted, extra or missing...
SEATTLE, July 21 /PRNewswire/ -- A Seattle-area mother and her four-month-old daughter represent a tiny number of births nationwide - perhaps among the first three- using a technology that could be the next major advancement in reducing multiple miscarriages. Sheila Gruber, 34, of Duval, had suffered two consecutive miscarriages prior to undergoing a form of in vitro fertilization (IVF) and embryonic analysis that allows geneticists to examine about one-fourth of the entire human genome -...
Although clubfoot is one of the most common congenital birth defects, few genetic causes have been found. Now, researchers at Washington University School of Medicine in St. Louis have found what they believe to be the most common cause of inherited clubfoot yet discovered.By performing a routine genetic screening on 66 patients with an inherited form of clubfoot, Christina Gurnett, MD, PhD, a Washington University pediatric geneticist and neurologist at St. Louis Children's Hospital, and her...
Researchers say that a blood test during pregnancy could one day replace more invasive tests for Down's syndrome. Women that are at high-risk are currently offered an amniocentesis test, which carries a risk of miscarriage. However, Dutch researchers told a fertility conference that they are on the verge of developing an accurate way of testing the mother's blood for chromosome disorders in the fetus. Experts said it was promising but too early to determine its effectiveness. The test is...
LONDON, June 30 /PRNewswire/ -- Frost & Sullivan is pleased to announce that it has awarded its prestigious 2010 Scandinavia New Product Innovation Award to FCMB ApS ("FCMB") for its breakthrough work in non-invasive prenatal testing. FCMB is developing a suite of non-invasive prenatal diagnostics based on isolating fetal cells from maternal blood samples. FCMB's diagnostics have the potential to provide results that are as accurate as more invasive procedures, such as amniocentesis and...
BEIJING, June 29 /PRNewswire-Asia-FirstCall/ -- China Medical Technologies, Inc. (the "Company") (Nasdaq: CMED), a leading China-based advanced in-vitro diagnostic ("IVD") company, today announced the recent publication of a large sample study on the Company's SPR analyzer and related HPV DNA chip (the "SPR System") for the detection of 16 high risk and 8 low risk genotypes of human papillomavirus ("HPV"). The study tested specimens of 560 patients with atypical squamous cells of...
Researchers from the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, and the Max-Planck Institute of Immunobiology Freiburg have identified a novel protein complex that regulates around 4000 genes in the fruit fly Drosophila and likely plays an important role in mammals, too. Published today in Molecular Cell, their findings explain how another regulatory protein can lead a double life."This new complex seems to be one of the major regulatory complexes both in Drosophila...
Y chromosome linked to fatal aneurysmResearch currently being undertaken at the University of Leicester may identify reasons underlying an increased risk of Abdominal Aortic Aneurysms (AAA) in men.In her doctoral study, Cardiovascular Sciences student Lisa Bloomer is looking into the causes of the male predominance of AAA, with a particular emphasis on genetic basis of the disease. Preliminary results from the study will be showcased at the University of Leicester's Festival of Postgraduate...
An international consortium of genetics experts has issued a consensus statement recommending chromosomal microarray (CMA) as the new standard practice for genetic evaluation of children with unexplained developmental delay, autism or birth defects.The statement and a related research review are published in the May 14, 2010 issue of the American Journal of Human Genetics."CMA gives us a huge improvement in the diagnostic yield of genetic testing and in our ability to counsel parents...
