Navigation Links
Genome-wide analysis shows previously undetected abnormalities in parents of affected children
Date:6/24/2012

Nuremberg, Germany: The use of genome-wide array analysis[1] in parents whose children are suspected of having a genetic disease shows that the parents frequently also have previously undetected genetic abnormalities, a researcher from The Netherlands told the annual conference of the European Society of Human Genetics today (Sunday). Being aware of this is important to parents because it means that their risk of having another affected child is significantly increased.

Dr. Nicole de Leeuw, a clinical laboratory geneticist in the Department of Human Genetics of the Radboud University Nijmegen Medical Centre in Nijmegen, and colleagues performed genome-wide SNP[2] array analysis in 6,500 patients and 1,874 parents. The patients had intellectual disability and/or congenital abnormalities, and the parents of those in whom an aberration was detected were tested in a similar way to determine whether they had the same aberration as their child. Mosaic aberrations, where both genetically normal and abnormal cells are present in an individual, were not only found in one in every 300 patients, but in one in every 270 parents as well. "These abnormalities occurred more frequently than we had expected", said Dr. de Leeuw. "Armed with this knowledge, we can try to understand not only why, but also how genetic disease arises in individuals, and this can help us to provide better genetic counselling."

Analysis of patients' genomes showed 6.5% de novo (spontaneously arising) genomic imbalances, 9.1% of rare, inherited imbalances, and 0.8% of X-linked abnormalities. Moreover, with the additional data from their SNP array test results, the researchers were able to subsequently find pathogenic mutations in recessive disease genes, uniparental disomies (where a single chromosome is doubled leading to two genetically identical ones), and mosaic aneuploidies (an extra or missing chromosome in some of the cells of the body) in about 30 patients.

"In at least
'/>"/>

Contact: Mary Rice
mary.rice@riceconseil.eu
European Society of Human Genetics
Source:Eurekalert

Page: 1 2 3

Related medicine news :

1. Analysis will examine safety of in-hospital underwater births
2. Biochip-based device for cell analysis
3. Zinc Pills May Shorten Colds, Analysis Suggests
4. Analysis Finds Clinical Trials Often Small, of Poor Quality
5. SomaLogic publishes proteomic biomarker analysis of lung cancer tissue samples
6. Lung Cancer Screening Might Pay Off, Analysis Shows
7. Myelodysplastic syndrome treated with deferasirox shows beneficial iron reduction, Moffitt says
8. Autism Speaks provides strategies to help a child with autism shows difficult behaviors
9. Study shows stagnating life expectancies in US
10. UW research shows new prognosis tool for deadly brain cancer
11. Stanford study shows opiates side effects rooted in patients genetics
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/29/2014)... 30, 2014 UWDress.com, one of the ... its latest collection of 2014 floor length bridesmaid ... for these wonderful items. According to the company’s marketing ... a greatly discounted rate (up to 60 percent off) ... products has a special neckline: strapless, one-shoulder, bateau and ...
(Date:8/29/2014)... August 29, 2014 As reported by WKMS.com ... Recovery , an Ohio municipal court drug has come up ... Fred Moses, who serves as the presiding judge in a ... makers to offer addicts a medicated treatment option that can ... the drug known as Vivitrol, which blocks receptors in the ...
(Date:8/29/2014)... 29, 2014 As reported by GantDaily.com in ... Drug Abuse Trends , Outbreaks (8/20), the National Institute on ... monitor drug abuse trends by turning to social media. As ... trends, it is also working with the University of Maryland ... Early Warning System, which will be funded by the National ...
(Date:8/29/2014)... 29, 2014 As reported by the Frederick News ... Court Grad (8/17), a graduate of the Frederick County Drug ... his own experience with the program. The graduate, Korey Shorb, put ... a 1 mile walk. He plans to donate the proceeds of ... to those who helped him. Shorb, who graduated in 2008, admitted ...
(Date:8/29/2014)... Dallas, Texas (PRWEB) August 30, 2014 ... Glass microfiber Industry, 2009-2019 is a professional and ... microfiber industry. The report firstly reviews the basic ... and manufacturing technology. The report then explores global ... their product specification, capacity, Production value, and market ...
Breaking Medicine News(10 mins):Health News:2014 Floor Length Bridesmaid Dresses for Sale at UWDress.com 2Health News:Ohio Judge Pushes for Addiction Recovery Tool 2Health News:Ohio Judge Pushes for Addiction Recovery Tool 3Health News:Social Media Proves to Be Helpful in Fighting Drug Abuse 2Health News:Social Media Proves to Be Helpful in Fighting Drug Abuse 3Health News:Drug Court Grad Brings More Life to Drug Court Program 2Health News:Drug Court Grad Brings More Life to Drug Court Program 3Health News:Global and Chinese Glass Microfiber Industry Forecasts to 2019 in New Research Report Available at ReportsnReports.com 2Health News:Global and Chinese Glass Microfiber Industry Forecasts to 2019 in New Research Report Available at ReportsnReports.com 3Health News:Global and Chinese Glass Microfiber Industry Forecasts to 2019 in New Research Report Available at ReportsnReports.com 4
... 24 TrinityCare Senior Living, Inc. (formerly OTCBB: JKAN) ... living facilities, today announced that its Board of Directors ... of the public entity from July 31st to December ... re-domicile and re-incorporation was completed and approved on February ...
... Though the American Medical Association and others have called ... and though some big pharma companies have recently moved ... for CME by third-party vendors), 75 - 100 percent ... hospitals is funded by the bio-pharma industry. As one ...
... up for spring, the winter storms that left many ... situations can occur without warning. To ensure that we ... Health Association,s (APHA) "Get Ready: Set Your Clocks, Check ... preparedness kits when they change their clocks on March ...
... Show Evidence of Differential Gene Expression in Patients ... shown that prostate biopsy samples taken from surgically ... vitamin supplements can be used to investigate their ... between tumor samples from patients who had taken ...
... N.C. -- Ancient groundwater being tapped by Jordan, one of ... found to contain twenty times the radiation considered safe for ... of researchers. , "The combined activities of 228 radium ... in the groundwater we tested are up to 2000 ...
... Inc., a,manufacturer of point-of-care robotic systems for the ... hired Jeffrey S.,Jones to serve as the Company,s ... executive, joined the PolyRemedy management team in,January 2009. ... in growing innovative medical device companies, Jeff,brings a ...
Cached Medicine News:Health News:TrinityCare Senior Living, Inc. Changes Fiscal Year End to December 31st 2Health News:Educating the Market: Creating Value Through Support of Continuing Medical Education 2Health News:Check Your Emergency Stocks When You Change Your Clocks, Says APHA 2Health News:Also in the Feb. 24 JNCI 2Health News:Also in the Feb. 24 JNCI 3Health News:Also in the Feb. 24 JNCI 4Health News:Jordan's fossil water source has high radiation levels 2Health News:Jordan's fossil water source has high radiation levels 3Health News:PolyRemedy Names Jeffrey Jones as Its Chief Operating Officer 2
(Date:8/29/2014)... 2014   Mast Therapeutics, Inc. (NYSE ... that Santosh Vetticaden, Chief Medical Officer and Senior ... personal reasons, in mid-September.  Edwin L. Parsley ... Pharmaceuticals, which Mast acquired earlier this year, will ... interim Chief Medical Officer.  Dr. Parsley previously was ...
(Date:8/29/2014)... , Aug. 29, 2014 Research ... "China Orthopedic Instrument Industry Report, 2014-2017" report ... aging population and rising proportion of reimbursement for medical ... effectively released, with its scale presenting a CAGR of ... products are three product segments of orthopedic instruments in ...
(Date:8/29/2014)... DENVER , Aug. 29, 2014 Does your ... date, nearly 800 doctors have recommended marijuana to the over ... Amendment 20. But the majority of the other roughly 20,300+ ... still know very little about it – even though a ... adults say they have tried it. ...
Breaking Medicine Technology:Mast Therapeutics Announces Management Change 2Mast Therapeutics Announces Management Change 3Mast Therapeutics Announces Management Change 4China Orthopedic Instrument Industry Report, 2014-2017 2Medical Rules Marijuana Sales in Colorado But Most Doctors Still in the Dark 2Medical Rules Marijuana Sales in Colorado But Most Doctors Still in the Dark 3Medical Rules Marijuana Sales in Colorado But Most Doctors Still in the Dark 4
... , ... Netherlands , January 12 QIAGEN N.V.,(NASDAQ: QGEN ; ... GmbH, a privately held developer and manufacturer of UV and,fluorescence optical measurement ... at up to US$19 million in cash. , ...
... , MINNEAPOLIS, Jan. 11 ATS Medical, Inc. (Nasdaq: ... and services today announced preliminary fourth quarter 2009 revenue and ... Medical,s President and Chief Executive Officer, Michael Dale, at the ... 2010, in San Francisco, CA, at 8 a.m. Pacific Time ...
Cached Medicine Technology:QIAGEN Acquires ESE GmbH 2QIAGEN Acquires ESE GmbH 3QIAGEN Acquires ESE GmbH 4QIAGEN Acquires ESE GmbH 5QIAGEN Acquires ESE GmbH 6QIAGEN Acquires ESE GmbH 7ATS Medical Announces Preliminary Fourth Quarter 2009 Results 2ATS Medical Announces Preliminary Fourth Quarter 2009 Results 3ATS Medical Announces Preliminary Fourth Quarter 2009 Results 4
... QC 463 is a quality control ... monitoring the performance of blood gas, electrolyte, ... practical alternative to the use of human ... in three (3) levels for monitoring analyzer ...
Molteno3 Glaucoma Drainage Device incorporates the latest advances from Professor Moltenos glaucoma research. It has been extensively tested since early 2004 and gives even better control of intraocu...
... way to capture and process ultrasound images, ... a revolutionary advancement. The z.one platform, powered ... Convertible Ultrasound system, instantly converting from a ... ultrasound system with all the performance of ...
QC 123 is an assayed quality control material for blood gas instrumentation. It is available in three (3) levels for monitoring analyzer performance at varying points within the clinical range....
Medicine Products: