A new approach to investigating hard-to-find chromosomal abnormalities has identified 33 genes associated with autism and related disorders, 22 for the first time. Several of these genes also appear to be altered in different ...
Apr 19, 2012
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A chromosomal abnormality in children with a deadly form of brain cancer is linked with a poorer chance of survival, clinician scientists at The University of Nottingham have discovered.
Mar 28, 2012
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Down syndrome (DS) is the most common genetic disorder in live born children arising as a consequence of a chromosomal abnormality. It occurs as a result of having three copies of chromosome 21, instead of the usual two. ...
Mar 1, 2012
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Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into a medical test that ...
Feb 26, 2012
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Using a noninvasive test on maternal blood that deploys a novel biochemical assay and a new algorithm for analysis, scientists can detect, with a high degree of accuracy, the risk that a fetus has the chromosomal abnormalities ...
Feb 21, 2012
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A newly available DNA-based prenatal blood test that can identify a pregnancy with Down syndrome can also identify two additional chromosome abnormalities: trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome). The ...
Feb 2, 2012
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Mums-to-be who are both overweight and smoke during their pregnancy risk damaging their baby's developing heart, finds research published online in Heart.
Jan 30, 2012
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About one in five or six cases of adult leukaemia in Western populations relates to so-called chronic myeloid leukaemia, or CML. Treatment of CML usually relies on inhibitors of the abnormal protein that causes the condition ...
Jan 30, 2012
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A recent analysis of clinical trial results performed by the Radiation Therapy Oncology Group (RTOG) demonstrate that a chromosomal abnormality—specifically, the absence (co-deletion) of chromosomes 1p and 19q—have ...
Jan 19, 2012
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Melissa Perry, Sc.D., M.H.S., professor and chair of the Department of Environmental and Occupational Health at the GW School of Public Health and Health Services and adjunct associate professor at the Harvard School of Public ...
Jan 9, 2012
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