Information om | Engelska ordet ANEUPLOIDIES
ANEUPLOIDIES
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12
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Nej
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Exempel på hur man kan använda ANEUPLOIDIES i en mening
- These include structural aberrations (such as chromosomal inversions, insertions, deletions, and translocations) and numerical aberrations, also called aneuploidies (trisomies, monosomy X, and triploidy).
- Analyses of the products of human miscarriages show that the majority of aneuploidies (trisomies or monosomies) in early developing embryos arise from errors occurring during maternal meiosis and that paternal meiotic errors contribute less than 10%.
- Abortion can be considered in the case of congenital anomalies, including genetic aneuploidies and anatomic anomalies, especially since they may not be identified until the second trimester.
- Though the consistency of the skin findings have led to the term "hypomelanosis of Ito", it actually refers to a group of disorders with various genetic causes including polyploidies and aneuploidies.
- Mismatches in chromosome number (aneuploidies) during meiosis are responsible for human diseases like Down's syndrome and also emerge frequently in cancer cells.
- Novel array based techniques for screening genome-wide copy number variants and loss of heterozygosity in single cells showed that chromosome aneuploidies, uniparental disomies, segmental deletions, duplications, and amplifications frequently occur during embryogenesis.
- Though a 48-chromosome complement involving the autosomes would be unsurvivable, 48,XYYY and other high-level sex chromosome aneuploidies such as XXXY syndrome and tetrasomy X—or indeed 49-chromosome disorders such as pentasomy X—are survivable with relatively mild phenotypes due to the paucity of genes vital to basic development on the sex chromosomes.
- A number of facial and musculoskeletal anomalies are common to all aneuploidies of the sex chromosomes, including X chromosome polysomy such as tetrasomy X.
- Chromosome aneuploidies such as pentasomy X are diagnosed through the process of karyotyping, or chromosome testing.
- Since 2014, noninvasive testing has identified aneuploidies in chromosomes 13, 16, 18, 21, 22, X and Y, including Down syndrome (caused by trisomy 21), Edwards syndrome (caused by trisomy 18), Patau syndrome (caused by trisomy 13), as well as sex chromosome aneuploidies, such as Turner syndrome (45, X) and Klinefelter syndrome (47, XXY).
- Though a 48-chromosome complement involving the autosomes would be unsurvivable, 49,XXXYY and other high-level sex chromosome aneuploidies, such as tetrasomy X, pentasomy X, XYYY syndrome, XYYYY syndrome, and XXXXY syndrome, are survivable with relatively mild phenotypes due to the paucity of genes vital to basic development on the sex chromosomes.
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