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:4/17/2014)... One of the most popular vaccine brands for children ... may be overlooking some cost factors when choosing vaccines, ... expensive option, according to a new study by University ... administer can be driven by numerous factors," says Sheldon ... professor of computer science and of mathematics at the ...
(Date:4/17/2014)... Diego School of Medicine report that older women, plucky ... loss are more likely to be compassionate toward strangers ... in this month,s issue of the International Journal ... associated with better health and well-being as we age, ... the outcomes of individuals whose deficits in compassion put ...
(Date:4/17/2014)... Bonheur Children,s Hospital Pediatrician-in-Chief Jon McCullers, MD, was ... April issue of Nature Reviews Microbiology , ... Dr. McCullers, a world-renowned infectious disease specialist, and ... University of Tennessee Health Science Center, analyzed the ... 1957 and 1968 pandemics, as well as more ...
(Date:4/17/2014)... (April 17, 2014) Doctors who treat patients ... lymphangioleiomyomatosis (LAM) can face an agonizing treatment decision. ... the disease and help relieve shortness of breath. ... and sirolimus can cause potentially fatal complications following ... Dr. Daniel Dilling, medical director of Loyola University ...
(Date:4/17/2014)... April 17, 2014-- Colic affects about one in five ... numerous pediatric visits during the first several months after ... symptoms was showing promise; however, the April 1, 2014 ... Sung, Valerie) reported on a study, "Probiotics and Infant ... L reuteri for infant colic did not ...
Breaking Medicine News(10 mins):Health News:Study recalculates costs of combination vaccines 2Health News:The ilk of human kindness 2Health News:Patients with rare lung disease face agonizing treatment dilemma 2Health News:Patients with rare lung disease face agonizing treatment dilemma 3Health News:New study says probiotic use for infant colic is not effective in reducing symptoms 2
... and training, and program support to ... Ill., May 29 Knowing that pressure ulcers,are ... today introduced its Pressure Ulcer Prevention Program to ... skin,conditions, which may include dermatitis and skin tears., ...
... Ricardo Chavira, Vanessa Carlton to Help ... Global Breast Cancer Leader, WASHINGTON, May 29 ... Chavira and,Vanessa Carlton will join Susan G. Komen for ... events and activities leading up to the,19th annual Susan ...
... & Johnson,will host an all-day review of its ... update on its Consumer businesses, for the,investment community ... 5, 2008, at the Hyatt Regency Hotel in ... Comprehensive Care Group; Sheri,McCoy, Worldwide Chairman, Surgical Care ...
... Proposed Legislation Would Ban Drug Company Gifts of ... Yesterday the New York,State Assembly Health Committee ... how prescription drugs are marketed and sold in ... Assemblyman Richard,Gottfried (D-Manhattan), includes a ban on gifts ...
... (May 29, 2008) Dey, L.P. today announced that ... will stock Cyanokit 5g (hydroxocobalamin for injection) ANTIDOTE for ... and fire vehicles through a federal grant from the ... treatment that can be given to victims of suspected ...
... 29 GenVault Corporation, the,leader in dry-state, room ... that Whatman, Now part of GE Healthcare, will,become ... kits,in North America., The GenSolve DNA recovery ... DNA from their archived samples with a simple, ...
Cached Medicine News:Health News:Medline's Pressure Ulcer Prevention Program Addresses New CMS Deadline of October 1, 2008 2Health News:Medline's Pressure Ulcer Prevention Program Addresses New CMS Deadline of October 1, 2008 3Health News:Susan G. Komen for the Cure(R) Celebrity Ambassadors to Convene in Nation's Capital to Help Race for the Cure, End Breast Cancer Forever 2Health News:Assembly on the Move for Rx Reform 2Health News:Assembly on the Move for Rx Reform 3Health News:Florida EMS and fire vehicles to stock Cyanokit 5g antidote for cyanide poisoning 2Health News:Whatman, Now Part of GE Healthcare, to Distribute GenVault DNA Recovery Kits in North America 2Health News:Whatman, Now Part of GE Healthcare, to Distribute GenVault DNA Recovery Kits in North America 3
(Date:1/15/2014)... , Jan. 15, 2014 AARP Foundation today announced it ... adults suffering from the severe cold weather that has gripped ... to helping those in need; so to support these emergency ... up to $250,000, which could mean up to $500,000 in ...
(Date:1/15/2014)... 2014  Celsion Corporation (the "Company") (NASDAQ: CLSN ... institutional investors to purchase an aggregate of approximately $15 ... registered direct offering, led by a dedicated health care ... agreements with these investors pursuant to which the Company ...
(Date:1/15/2014)... Shire plc (LSE: SHP, NASDAQ: SHPG ) ... approval condition to the announced tender offer for all of the ... a result of the waiver, the transaction is no longer conditional ... on January 24, 2014 following the currently scheduled expiration time, subject ...
Breaking Medicine Technology:AARP Foundation Establishes Winter Relief Fund for Older Adults Suffering from the Severe Cold Weather 2AARP Foundation Establishes Winter Relief Fund for Older Adults Suffering from the Severe Cold Weather 3Celsion Corporation Announces $15 Million At-The-Market Registered Direct Offering 2Celsion Corporation Announces $15 Million At-The-Market Registered Direct Offering 3Shire Waives OFT Condition Relating to the Acquisition of ViroPharma Inc. 2Shire Waives OFT Condition Relating to the Acquisition of ViroPharma Inc. 3
... Reportlinker.com announces that a new market research report is available ... http://www.reportlinker.com/p0324750/Virtual-Pharma.html ... in the pharmaceutical market has slowed – almost to a ... cutting costs in a faltering world economy. ...
... NEW YORK, Nov. 3, 2010 Pfizer Inc. (NYSE: ... public to view and listen to a webcast of ... Primary Care, at the 2010 Annual Credit Suisse Healthcare ... Mountain Standard Time. (Logo: http://photos.prnewswire.com/prnh/20100416/PFIZERLOGO) ...
Cached Medicine Technology:Reportlinker Adds Virtual Pharma 2Reportlinker Adds Virtual Pharma 3Reportlinker Adds Virtual Pharma 4Reportlinker Adds Virtual Pharma 5Reportlinker Adds Virtual Pharma 6
XL STABI Hydrophilic Acrylic Lens....
XL OCTO Hydrophilic Acrylic Lens....
One piece multifocal acrylic intraocular lens....
MemoryLens Prefolded Acrylic Lens....
Medicine Products: