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Latest Karyotype Stories

2011-03-03 07:00:00

NEW HAVEN, Conn., March 3, 2011 /PRNewswire/ -- The launch of a new, non-invasive test for the identification of Turner syndrome (TS) was announced today by JS Genetics. The test, XCAT-TS, is a simple cheek swab that identifies girls with Turner syndrome. Until now, Turner syndrome could only be diagnosed with a Karyotype, an invasive test that requires blood from the patient. The results of the XCAT-TS validation study were published in the February 2011 issue of Journal of Clinical...

2010-05-14 11:19:38

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 about...

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2010-03-15 08:55:00

In largest study to date, chromosomal microarray analysis picks up more abnormalities than current tests A large study from Children's Hospital Boston and the Boston-based Autism Consortium finds that a genetic test that samples the entire genome, known as chromosomal microarray analysis, has about three times the detection rate for genetic changes related to autism spectrum disorders (ASDs) than standard tests. Publishing in the April issue of Pediatrics (and online March 15), the authors...

2009-07-16 19:00:00

U.S. scientists say a rapid evolution of the Y chromosome carried only by men has led to a rapid gene loss that might lead to the chromosome's disappearance. Pennsylvania State University Associate Professor Kateryna Makova, who led the study, and researcher Melissa Wilson compared the DNA of the X and Y chromosomes in different classes of mammals. The researchers found that DNA of the human Y chromosome began to evolve rapidly 80 million to 130 million years ago. But while DNA on X...

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2009-06-13 10:26:00

It is a misinterpretation of the application of the bedrock of scientific naming with regard to the number of moose species that Kris Hundertmark, a University of Alaska Fairbanks wildlife geneticist at the Institute of Arctic Biology, seeks to correct. The adoption of Carl Linnaeus' two-part, genus-species system of naming, called taxonomy, has been used for centuries on all described organisms on Earth and is considered one of the greatest triumphs in science. Hundertmark will be presenting...

2009-05-15 13:13:00

OMAHA, Neb., May 15 /PRNewswire/ -- Creighton Medical Laboratories, based at Creighton University School of Medicine in Omaha, announced today that it has become the first clinical laboratory worldwide to offer a new and more effective testing method for cancer. The method, called SNP array karyotyping, has been successfully used in research laboratories to study cancer for several years. However, Creighton Medical Laboratories, using AffymetrixTM SNP arrays, is the first laboratory to...

2009-04-16 14:28:14

Berkeley -- Move over, Y chromosome "“ it's time X got some attention.In the first evolutionary study of the chromosome associated with being female, University of California, Berkeley, biologist Doris Bachtrog and her colleagues show that the history of the X chromosome is every bit as interesting as the much-studied, male-determining Y chromosome, and offers important clues to the origins and benefits of sexual reproduction."Contrary to the traditional view of being a passive player,...

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2008-11-18 09:45:56

A "chip" or array that can quickly detect disorders such as Down syndrome or other diseases associated with chromosomal abnormalities proved an effective tool in prenatal diagnosis in a series of 300 cases at Baylor College of Medicine, said researchers in a report that appears in the current issue of the journal Prenatal Diagnosis. In the report, a team led by Dr. Arthur Beaudet and Dr. Sau Wai Cheung at BCM, described use of array comparative genomic hybridization to analyze samples taken...

2008-08-18 12:00:55

Researchers at Signature Genomic Laboratories recently published the first large-scale prospective study comparing the detection rate of chromosomal abnormalities--missing or extra pieces of DNA--by microarray analysis in prenatal cases to that of neonatal cases referred with a variety of clinical findings, including congenital anomalies. In the study, the findings of which will appear in the September issue of the journal Prenatal Diagnosis and were electronically published July 22,...

2005-07-21 18:33:52

BETHESDA, Md., Thurs., July 21, 2005 "“ An international team that includes researchers from the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), has discovered that mammalian chromosomes have evolved by breaking at specific sites rather than randomly as long thought "“ and that many of the breakage hotspots are also involved in human cancer. In a study published in the July 22 issue of the journal Science, a team of 25 scientists...


Word of the Day
humgruffin
  • A terrible or repulsive person.
Regarding the etymology of 'humgruffin,' the OED says (rather unhelpfully) that it's a 'made-up word.' We might guess that 'hum' comes from 'humbug' or possibly 'hum' meaning 'a disagreeable smell,' while 'gruffin' could be a combination of 'gruff' and 'griffin.'