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:3/30/2015)... 2015 Innovaacom, a leading provider of ... announced it is expanding its services into Asia in ... of the world comes at a time when Asia’s ... for better healthcare. A rapidly growing aging population and ... advances in medicine in Asia. “We are excited to ...
(Date:3/30/2015)... March 30, 2015 On March 29, 2015 ... Day. In honor of all small business owners, for their ... spotlighting them. , According to Zane Benefits' website, small ... economy, creating 75% of all jobs and employing over 60 ... for 54% of all U.S. sales. The small business sector ...
(Date:3/30/2015)... On March 19th, 2015, in the ... the Detroit Lions, LiveToBeSober.org hosted the “Fighting Addiction Together” ... and bishops as well as other civic leaders and ... the luncheon, including retired Detroit Lions wide receiver Herman ... two survivors of their own personal battles with addiction, ...
(Date:3/30/2015)... (PRWEB) March 30, 2015 Valerie Harper, ... 1970s sitcoms “Rhoda” and “The Mary Tyler Moore Show,” ... ceremony honoring oncology nurses, CURETM magazine announced today. Harper, ... of the Oncology Nursing Society’s 40th Annual Congress on ... the important role oncology nurses play in the lives ...
(Date:3/30/2015)... York, NY (PRWEB) March 30, 2015 V/NO ... that includes a convenient flute for opening/closing and for reuse. ... wine on the go. Health-conscious New Yorkers, professionals, and basically ... is sophisticated yet delicious to kick back socially or pair ... arise. , “ V/NO is dealcoholized wine and that ...
Breaking Medicine News(10 mins):Health News:Innovaacom Expands Services and Medical Education Programs into Asia 2Health News:Zane Benefits Puts Spotlight on Small Businesses for National Mom and Pop Business Owners Day 2Health News:LiveToBeSober.org Releases Highlight Reel of Substance Abuse Conference Keynote Speakers 2Health News:Spunky Sitcom Star and Lung Cancer Survivor Valerie Harper to Keynote Extraordinary Healer™ Award Ceremony Honoring Oncoloy Nurses 2Health News:Spunky Sitcom Star and Lung Cancer Survivor Valerie Harper to Keynote Extraordinary Healer™ Award Ceremony Honoring Oncoloy Nurses 3Health News:Napa Valley Alcohol-Removed Red, White & Rosé Wines Have Launched. 2
... ... to educate people about ,bipolar disorder , , ... Wilmington, DE (PRWEB) November 11, 2009 -- As part of a panel ... firsthand by this disease. Debi was joined in New York by people living with ...
... Pa., Nov. 12 You,re visiting the dentist for what ... or she says you need a root canal. Though it,s ... one in the chair, you may have several questions and ... feared root canals for quite some time. The Pennsylvania Dental ...
... an industry faced with unprecedented uncertainty. One of the ... and clearly communicate relevant and timely messages to an ... & Krause (GY&K) reaffirmed its commitment to exceptional healthcare ... six national CardioVascular Advertising (CVA) Awards. , "Our ...
... GREENGUARD product certification pilot significantly expands chemical emissions ... harmful chemicals from products used in multiple environments. ... Environmental Institute (GEI) announces the launch of GREENGUARD ... existing stringent indoor air quality criteria, additional chemical ...
... Mesa Laboratories, Inc. (Nasdaq: MLAB ) today announced that ... of $.11 per share of common stock, up from $.10 ... December 15, 2009, to shareholders of record on November 30, ... maintained strong cash positions and has continued to build its ...
... WILMINGTON, Del., Nov. 12 Christiana Care ... first community hospital in the nation to submit specimens ... Genome Atlas (TCGA) Project. The project is part of ... to help doctors diagnose, treat and even prevent cancer ...
Cached Medicine News:Health News:Actress Debi Mazar Talks About her Family's Experience with Bipolar Depression 2Health News:Actress Debi Mazar Talks About her Family's Experience with Bipolar Depression 3Health News:Painful Root Canals Are a Thing of the Past 2Health News:Healthcare Organizations Face Tough Marketing Challenges - GY&K Asks 'Are You Relevant?' 2Health News:Healthcare Organizations Face Tough Marketing Challenges - GY&K Asks 'Are You Relevant?' 3Health News:GREENGUARD Launches Comprehensive Health-Based Certification Pilot Program 2Health News:Christiana Care First Community Hospital to Submit Samples to Cancer Genome Atlas Project 2
(Date:3/30/2015)... , March 30, 2015   GlassesUSA , the ... closing of $12.5 million in new financing led by ... The funding will further GlassesUSA,s aggressive business growth and accelerate ... market of online eyewear, both B2C and B2B. ... , COO Eldad Rothman , and CTO Roy ...
(Date:3/30/2015)... Mass. , March 30, 2015 Alere ... rapid diagnostics, issued the following statement today in support ... to Combat Antibiotic-Resistant Bacteria. "As the ... commend President Barack Obama for establishing a ... to address the serious threat of antibiotic resistance. We ...
(Date:3/30/2015)... --Research and Markets ( http://www.researchandmarkets.com/research/h699d6/global_healthcare ) has ... Computing Market 2015-2019" report to their offering. ... market to grow at a CAGR of 21.95 percent ... IT in healthcare has led to a rise in ... industry. Though there are significant challenges such as high ...
Breaking Medicine Technology:GlassesUSA.com Raises $12.5 Million Growth Round Led By Viola Private Equity 2GlassesUSA.com Raises $12.5 Million Growth Round Led By Viola Private Equity 3Alere Applauds President's National Action Plan to Combat Antibiotic-Resistant Bacteria 2Global Healthcare Cloud Computing Market 2015-2019 with Agfa, CareCloud, Carestream Health, Cisco, ClearData Networks, Dell, GE & Merge Healthcare Dominating 2
... 2011 Reportlinker.com announces that a new market ... Hong Kong SMBG Devices and Strips ... This Market Engineering research service has ... glucose monitoring device sales and consumption of test ...
... MADISON, N.J., May 17, 2011 Quest Diagnostics Incorporated ... of diagnostic testing, information and services, announced today the ... CRA).  The acquisition was completed by means of a ... owned subsidiary of Quest Diagnostics was merged with and ...
Cached Medicine Technology:Reportlinker Adds Hong Kong SMBG Devices and Strips Market 2Reportlinker Adds Hong Kong SMBG Devices and Strips Market 3Reportlinker Adds Hong Kong SMBG Devices and Strips Market 4Reportlinker Adds Hong Kong SMBG Devices and Strips Market 5Reportlinker Adds Hong Kong SMBG Devices and Strips Market 6Quest Diagnostics Successfully Completes Acquisition of Celera 2