Using a new technique, long-read sequencing, that allows DNA to be analyzed in much greater detail than before, a team of Swedish clinicians and researchers has discovered an unexpected complexity in chromosomal abnormalities. ...
Nov 4, 2024
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We use our lips to talk, eat, drink, and breathe; they signal our emotions, health, and aesthetic beauty. It takes a complex structure to perform so many roles, so lip problems can be hard to repair effectively. Basic research ...
Nov 4, 2024
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Cedars-Sinai and UCLA investigators have studied first trimester placental tissue and found that for some genes, the process that turns their information into a biological function may depend on the sex of the fetus.
Oct 23, 2024
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Miscarriage, or early pregnancy loss, can have devastating emotional effects, but it is poorly managed in Canada. A review published in the Canadian Medical Association Journal provides guidance to physicians on how to diagnose ...
Oct 15, 2024
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Non-invasive prenatal tests (NIPTs) are increasingly an integral part of screening during pregnancies across the world. Research from Amsterdam UMC shows that a pregnant woman's genetic background influences the effectiveness ...
Sep 26, 2024
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Using iPS cells generated from a patient with a myeloid neoplasm caused by a rare chromosomal rearrangement between the MECOM and MYC genes, a team of researchers led by Associate Professor Yoshinori Yoshida and Clinical ...
Sep 9, 2024
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A recent study published in Frontiers in Genetics demonstrates that combining copy number variants sequencing (CNVs-seq) and whole exome sequencing (WES) is effective in detecting congenital heart disease (CHD). CHDs are ...
Sep 4, 2024
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Researchers from Karolinska Institutet and Maastricht University have developed a technique that enables the examination of embryos for all known genetic abnormalities with a single test. The new method is more accurate and ...
Sep 2, 2024
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Congenital heart disease (CHD) includes a variety of structural malformations affecting the heart and blood vessels. With growing understanding of the molecular processes involved in heart development, genetic variants have ...
May 16, 2024
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Researchers have been chipping away at the genetic causes of congenital heart disease (CHD) for a couple of decades. About 45% of cases of CHD have an identifiable cause, including chromosomal abnormalities, genetic variants ...
Apr 8, 2024
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A chromosome anomaly, abnormality or aberration reflects an atypical number of chromosomes or a structural abnormality in one or more chromosomes. A Karyotype refers to a full set of chromosomes from an individual which can be compared to a "normal" Karyotype for the species via genetic testing. A chromosome anomaly may be detected or confirmed in this manner. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. There are many types of chromosome anomalies. They can be organized into two basic groups, numerical and structural anomalies.
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