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Last updated on April 19, 2014 at 1:20 EDT

Latest Chromosomal abnormalities Stories

2014-04-09 08:29:15

PHILADELPHIA, April 9, 2014 /PRNewswire/ -- On April 5, 2014, the 20(th) anniversary of the death of Dr. Jerome Lejeune was marked with great celebration in Paris. Dr. Jerome Lejeune died there on April 3, 1994. To his family and "little ones" - as he always called his patients affected by Down syndrome - he was a remarkable man of science who was motivated by a profound love for those he served. He was a father of 5 who dedicated his life to his family, and to the service of his...

2013-12-19 08:28:12

Largest published clinical dataset in twins of any company offering NIPT SAN JOSE, Calif., Dec. 19, 2013 /PRNewswire/ -- Ariosa Diagnostics, Inc., maker of the Harmony(TM) Prenatal Test, announced today the publication of two clinical studies involving twin pregnancies in Fetal Diagnosis and Therapy. The two studies provide information on how to consider use of non-invasive prenatal testing (NIPT) with cell-free DNA (cfDNA) in identical (monozygotic) and fraternal (dizygotic) twin...

2013-10-23 11:27:14

Genome-wide changes result from silencing extra chromosome, scientists report at ASHG 2013 The first evidence that the underlying genetic defect responsible for trisomy 21, also known as Down syndrome, can be suppressed in laboratory cultures of patient-derived stem cells was presented today (Oct. 22) at the American Society of Human Genetics 2013 annual meeting in Boston. People with Down syndrome are born with an extra chromosome 21, which results in a variety of physical and...

2013-10-22 08:32:06

The MaterniT21 PLUS Test Celebrates its Second Anniversary Since Launch SAN DIEGO, Oct. 22, 2013 /PRNewswire/ -- Sequenom, Inc. (NASDAQ: SQNM), a life sciences company providing innovative testing and genetic analysis solutions, announced today its wholly owned subsidiary, Sequenom Center for Molecular Medicine, doing business as Sequenom Laboratories, has launched the Enhanced Sequencing Series for its MaterniT21(TM) PLUS laboratory-developed test (LDT). The MaterniT21 PLUS test...

2013-07-24 23:24:55

The media has recently been filled with headlines proclaiming that Down syndrome has been “cured”. These statements are not accurate, but that is not to say the findings are without significance. Philadelphia, PA (PRWEB) July 24, 2013 The media has recently been filled with headlines proclaiming that Down syndrome has been “cured”. Down syndrome, or trisomy 21, is the most common survivable chromosomal abnormality and is caused by the presence at conception of a third copy of...

Down's Syndrome Genes Shut Off In New Breakthrough
2013-07-18 05:30:06

Susan Bowen for redOrbit.com - Your Universe Online Scientists at the University of Massachusetts Medical School have made a huge breakthrough in our understanding of Down's syndrome. They reported in the online science journal Nature, that in a lab, they have switched off the extra chromosome that causes the disorder in humans. This is the proof-of-principal that opens the doorway for exciting new discoveries about this condition. Down's syndrome is the world's leading genetically...

2013-06-07 12:48:20

New research has found that routine screening using a non-invasive test that analyzes fetal DNA in a pregnant woman's blood can accurately detect Down's syndrome and other genetic fetal abnormalities in the first trimester. Published early online in Ultrasound in Obstetrics & Gynecology, the results suggest that the test is superior to currently available screening strategies and could reshape standards in prenatal testing. Current screening for Down's syndrome, or trisomy 21, and...

Understanding Why Cholesterol Is Linked To Alzheimer's And Heart Disease
2013-04-16 12:15:42

Michael Harper for redOrbit.com — Your Universe Online Multiple studies have concluded high amounts of cholesterol can be damaging to your heart and can, in turn, lead to Alzheimer´s disease or stroke. Though this single fact has been well documented, the exact reason why high cholesterol affects the brain has been largely unclear for many years. Researchers from the Linda Crnic Institute for Down Syndrome and the University of Colorado School of Medicine have studied this...

2013-03-18 08:31:33

SAN JOSE, Calif., March 18, 2013 /PRNewswire/ -- Ariosa Diagnostics, maker of the non-invasive Harmony(TM) Prenatal Test for risk assessment of common genetic conditions, has announced the expansion of the Harmony Prenatal Test to include the option of Y-chromosome analysis, which can provide information on fetal sex and aneuploidy as early as 10 weeks gestation. (Logo: http://photos.prnewswire.com/prnh/20130225/SF62999LOGO) The new "Harmony with Y test" will offer patients and their...

2013-02-04 08:25:13

SAN DIEGO, Feb. 4, 2013 /PRNewswire/ -- Sequenom, Inc. (NASDAQ: SQNM), a life sciences company providing innovative diagnostic testing and genetic analysis solutions, announced today that the MaterniT21(TM) PLUS laboratory-developed test (LDT) available exclusively through Sequenom Center for Molecular Medicine (Sequenom CMM) will now report as additional findings the presence of certain fetal sex chromosomal aneuploidies, in addition to its identification of autosomal aneuploidies...