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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First evidence for genetic cause for Barrett's oesophagus found
Genetic variations that are linked with the onset of Barrett's oesophagus (BE), a pre-cancerous condition of the lower end of the gullet, have been identified for the first time. The discovery of variations in regions on ...
Genetics
Sep 09, 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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Clusters of cooperating tumor-suppressor genes are found in large regions deleted in common cancers
Scientists at Cold Spring Harbor Laboratory (CSHL) and Memorial Sloan-Kettering Cancer Center have amassed strong experimental evidence implying that commonly occurring large chromosomal deletions that are seen in many cancer ...
Cancer
May 07, 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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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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Ponatinib acts against the most resistant types of chronic myeloid leukemia
A previously invincible mutation in chronic myeloid leukemia (CML) has been thwarted by an investigational drug in a phase I clinical trial reported in the current edition of The New England Journal of Medicine.
Cancer
Nov 28, 2012 |
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New assessment reveals value of second embryo biopsy for women of advanced maternal age
An elegant new study confirms that the most commonly used method of screening for embryo abnormalities following in vitro fertilization (IVF) does accurately predict the success of embryo transplantation for younger women, ...
Obstetrics & gynaecology
Nov 07, 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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New study documents women's experiences with chromosome abnormalities found in new prenatal test
(Medical Xpress)—We often hear that "knowledge is power." But, that isn't always the case, especially when the knowledge pertains to the health of an unborn child, with murky implications, at best. A new study, led by researchers ...
Genetics
Sep 21, 2012 |
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Mutations impair childhood growth and development by disrupting organization of chromosome pairs
Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins ...
Genetics
May 29, 2012 |
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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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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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