Navigation Links
New test shows promise for accurate diagnosis of Turner syndrome
Date:2/16/2011

As a child grows, a short stature is not usually cause for concern, but it is often the only sign of a condition called Turner syndrome. Prevalent in girls, Turner syndrome is a genetic defect that short-circuits normal growth and leads to cardiac and renal problems. It is not commonly detected until age 10 or older when a youngster's unusually short height raises suspicions.

This lag before diagnosis of the condition can delay the start of growth hormone therapy, which can help in achieving normal or near-normal adult stature. Yale School of Medicine researchers are aiming to close this lag time with a new inexpensive, accurate and practical diagnostic test for Turner syndrome that can be done in a doctor's office. Their research is published online and in an upcoming March 2011 print issue of The Endocrine Society's Journal of Clinical Endocrinology & Metabolism.

"We've developed a practical test that can be used to test large numbers of girls, and is much quicker and less expensive than the current method called cytogenetic analysis by karyotype," said the study's lead author Scott Rivkees, M.D., professor of pediatrics at Yale School of Medicine. "The new test would also provide the benefit of early detection of other health conditions associated with TS, such as potential renal and cardiac problems."

Turner syndrome occurs when an X-chromosome is completely or partially deleted. The syndrome affects one in 1,500 to 2,000 females. Untreated girls with TS achieve an average height of 4 feet, 8 inches.

Rivkees and his co-authors developed the test based on a quantitative method of genotyping to detect X-chromosome abnormalities. The test was developed and validated from DNA samples from more than 500 individuals. Of 90 clinically confirmed TS individuals tested, the assay correctly identified 87.

"Because of the small amount of DNA needed for the test, sample DNA can be extracted from cheek swabs, or fro
'/>"/>

Contact: Karen N. Peart
karen.peart@yale.edu
203-432-1326
Yale University
Source:Eurekalert

Page: 1 2

Related biology news :

1. Long-term study shows effect of climate change on animal diversity
2. New approach to treating cystic fibrosis lung infection shows promise
3. Research shows Brazilian acai berry antioxidants absorbed by human body
4. Wildfires cause ozone pollution to violate health standards, new study shows
5. New CU-Boulder study shows diversity decreases chances of parasitic disease
6. U of MN study shows link between gene variations and cancer survival
7. New study shows drinking your vegetables may be a solution to bridging the vegetable gap
8. Mounting evidence shows health benefits of grape polyphenols
9. Research shows that the pill does not deserve its reputation for causing weight gain
10. New journal shows half-broken gene is enough to cause cancer
11. Research shows that time invested in practicing pays off for young musicians
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/20/2014)... 2014  The second annual Biometrics UnPlugged Executive ... Tampa, Florida on September 15, 2014, ... Technology and Strategy at Samsung, and Philippe de ... of this year,s event is Mobility at the ... "Biometrics UnPlugged: Mobility at the Crossroads of Commerce ...
(Date:8/19/2014)... . Wind ... large amount of electricity is to be produced with renewable ... be stored during productive periods so that these fluctuations can ... adequate for the purpose. Science and industry are therefore working ... systems that used to be too expensive or unsophisticated to ...
(Date:8/19/2014)... purchased at retail seafood counters in 10 different ... expose consumers to unexpectedly high levels of mercury, ... present a fish of the same species, but ... mislabeling offense, according to new research by University ... of seafood is essential to allow consumers to ...
Breaking Biology News(10 mins):Biometrics UnPlugged: Mobility at the Crossroads of Commerce & Privacy to Feature Interactive Sessions with Samsung and Experian 2Asian inventions dominate energy storage systems 2Asian inventions dominate energy storage systems 3Seafood substitutions can expose consumers to unexpectedly high mercury 2Seafood substitutions can expose consumers to unexpectedly high mercury 3
... Infection control experts at The Johns Hopkins Hospital have ... a bleaching agent into the air and then detoxify ... preventing the spread of multiple-drug-resistant bacteria, or so-called hospital ... hydrogen peroxide vaporizers -- first deployed in several Singapore ...
... West China, Myanmar and Northern Vietnam contain one of the ... area are thousands of caves and gorges. It is only ... plants. This exploration is yielding many new species new to ... study was published in the open access journal ...
... Geosphere articles include additions to several special issues ... Change Offshore New Jersey"; "The ANDRILL McMurdo Ice Shelf (MIS) ... Sea and Beyond: Contributions to Marine Geology in Honor of ... the Colorado River System II." Topics include, 1. ...
Cached Biology News:Hydrogen peroxide vapor enhances hospital disinfection of superbugs 2Hydrogen peroxide vapor enhances hospital disinfection of superbugs 3Hydrogen peroxide vapor enhances hospital disinfection of superbugs 4Cave dwelling nettle discovered in China 2Geosphere covers Grand Canyon, deep drill coring, Death Valley, and more 2Geosphere covers Grand Canyon, deep drill coring, Death Valley, and more 3Geosphere covers Grand Canyon, deep drill coring, Death Valley, and more 4Geosphere covers Grand Canyon, deep drill coring, Death Valley, and more 5Geosphere covers Grand Canyon, deep drill coring, Death Valley, and more 6Geosphere covers Grand Canyon, deep drill coring, Death Valley, and more 7Geosphere covers Grand Canyon, deep drill coring, Death Valley, and more 8
(Date:8/19/2014)... Aug. 19, 2014   Synthetic Biologics, Inc. ... novel anti-infective biologic and drug programs targeting specific ... today that its novel C. difficile ... th Interscience Conference on Antimicrobial Agents and ... D.C. Synthetic Biologics, Senior ...
(Date:8/19/2014)... August 19, 2014 Sales Horizons, a ... its online sales skills training course to ... , MedTech clinical staff spend the majority of their ... standalone medical center, or physician practice – providing support ... why stop there? Sales Horizons believes clinical staff are ...
(Date:8/18/2014)... (Aug. 18, 2014) -- A new therapy developed ... (USF) Morsani College of Medicine and Columbia University ... complications of interventional cardiovascular disease treatment. , ... the novel molecular therapy could selectively inhibit blood ... a medical procedure using a balloon catheter to ...
(Date:8/18/2014)... Md. , Aug. 18, 2014 /PRNewswire/ ... maker of advanced consumer medical devices said ... was interviewed by CEOLIVE.TV as part ... The entire interview is available at ... Dr. Kotak explains to investors the unique ...
Breaking Biology Technology:Synthetic Biologics Announces Late-Breaking Poster Presentation for C. difficile Program at 54th ICAAC 2Synthetic Biologics Announces Late-Breaking Poster Presentation for C. difficile Program at 54th ICAAC 3Synthetic Biologics Announces Late-Breaking Poster Presentation for C. difficile Program at 54th ICAAC 4Sales Horizons Launches a New Online Sales Training Course for MedTech Clinical Staff to Develop Their Sales Skills 2Sales Horizons Launches a New Online Sales Training Course for MedTech Clinical Staff to Develop Their Sales Skills 3Selective therapy may improve artery repair after interventional cardiovascular procedures 2Selective therapy may improve artery repair after interventional cardiovascular procedures 3BioElectronics EVP Dr. Deepak Kotak Interviewed on CEO Live 2BioElectronics EVP Dr. Deepak Kotak Interviewed on CEO Live 3
... work 25 hours a day. So several speakers at the ... drive home the point that "work smarter, not harder" is ... of the University of Wisconsin-Madison School of Business, summed it ... Knetter said. To him, producing more by working more hours ...
... the possibility - make that probability - of data breaches are ... the CEO's top technologist doesn't mind consulting with the legal team, ... the message of attorney Erik Phelps, a partner in the law ... 2007 gathering that since e-mail is now discoverable in court, and ...
... sort - from the globally familiar to the local ... and venerated with a speed never seen before. The ... for brand commentary, both positive and negative, and these ... political brand managers. They now must proactively protect brand ...
Cached Biology Technology:Fusion 2007: Innovation drives productivity in post 24x7 world 2Fusion 2007: In e-legalities, CIOs and lawyers combine to provide business value 2Fusion 2007: In e-legalities, CIOs and lawyers combine to provide business value 3Brand protection in the age of customer engagement 2Brand protection in the age of customer engagement 3Brand protection in the age of customer engagement 4Brand protection in the age of customer engagement 5Brand protection in the age of customer engagement 6
Assay Diluent, 10 L...
Assay Diluent Trial Pack, 4 x 100 mL...
HRP Monoclonal-Goat Diluent - 5X Concentrate, 25 mL...
SpectroQuest single beam 1.8nm UV/Vis spectrophotometer; stand-alone unit...
Biology Products: