News tagged with chromosomal abnormality
Extra chromosome 21 removed from Down syndrome cell line
(Medical Xpress)—University of Washington scientists have succeeded in removing the extra copy of chromosome 21 in cell cultures derived from a person with Down syndrome, a condition in which the body's ...
Medical research
Nov 09, 2012 |
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BPA harms human reproduction by damaging chromosomes, disrupting egg development
A Washington State University researcher has found new evidence that the plastic additive BPA can disrupt women's reproductive systems, causing chromosome damage, miscarriages and birth defects.
Medical research
Sep 24, 2012 |
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Baby's genome deciphered prenatally from parents' lab tests
Scientists have successfully sequenced the genome of a baby in the womb without tapping its protective fluid sac. This non-invasive approach to obtaining the fetal genome is reported in the June 6 issue of ...
Genetics
Jun 06, 2012 |
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Scientists find that chromosomal abnormalities are associated with aging and cancer
(Medical Xpress) -- Two new studies have found that large structural abnormalities in chromosomes, some of which have been associated with increased risk of cancer, can be detected in a small fraction of people without a ...
Genetics
May 08, 2012 |
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Brain scan identifies patterns of plaques and tangles in adults with Down syndrome
In one of the first studies of its kind, UCLA researchers used a unique brain scan to assess the levels of amyloid plaques and neurofibrillary tangles -- the hallmarks of Alzheimer's disease -- in adults with ...
Neuroscience
Jun 13, 2011 |
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Researchers discover new genes contributing to autism, links to psychiatric disorders
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 ...
Autism spectrum disorders
Apr 19, 2012 |
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Scientists discover elusive platelet count and limb development gene
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 ...
Genetics
Feb 26, 2012 |
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Understanding and treating the cognitive dysfunction of Down syndrome and Alzheimer's disease
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. ...
Psychology & Psychiatry
Mar 01, 2012 |
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Faulty intellectual disability genes linked to older dads at conception
Chromosomal abnormalities linked to intellectual disability can be traced back to the father, particularly those who are older when the child is conceived, finds research published online in the Journal of Medical Genetics.
Genetics
Oct 03, 2011 |
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DNA test that identifies Down syndrome in pregnancy can also detect trisomy 18 and trisomy 13
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 ...
Obstetrics & gynaecology
Feb 02, 2012 |
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Genetic abnormality offers diagnostic hope for children's cancer
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.
Cancer
Mar 28, 2012 |
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Whole genome sequencing of de novo balanced rearrangements in prenatal diagnosis
Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported today at the American Society of Human Genetics ...
Genetics
Nov 07, 2012 |
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Positive early results in clinical trial of leukaemia vaccine
Early results of a trial to treat leukaemia with a WT1 DNA vaccine, has shown robust vaccine-specific antibody responses in all vaccinated patients evaluated to date.
Cancer
Dec 07, 2012 |
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Study points to a safer, better test for chromosomal defects in the fetus
A noninvasive, sequencing-based approach for detecting chromosomal abnormalities in the developing fetus is safer and more informative in some cases than traditional methods, according to a study published ...
Genetics
Jan 10, 2013 |
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A new mechanism that contributes to the evolution of cancer
Cancer arises from the accumulation of mutations and structural changes in chromosomes, which in some cases give rise to combinations that favour the growth or expansion of the disease. In this context, chromosomes tend to ...
Cancer
Jan 31, 2013 |
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