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The International System for Human Cytogenomic Nomenclature (ISCN; previously the International System for Human Cytogenetic Nomenclature) is an international standard for human chromosome nomenclature, which includes band names, symbols, and abbreviated terms used in the description of human chromosome and chromosome abnormalities.
A karyotype of an individual with trisomy 21, showing three copies of chromosome 21.. An abnormal number of chromosomes is known as aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc.).
A karyotype is the general appearance of the complete set of chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes.
Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human somatic cell having 45 or 47 chromosomes instead of the usual 46. [1] [2] It does not include a difference of one or more complete sets of chromosomes.
A pair of homologous chromosomes, or homologs, is a set of one maternal and one paternal chromosome that pair up with each other inside a cell during fertilization. ...
Detail of a human metaphase spread. A region in the pseudoautosomal region of the short arms of the X chromosome (left) and the Y chromosome (top right) was detected by fluorescent in situ hybridization (green).
Image: example of karyotyping showing a total of 46 chromosomes in the genome. Molecular cytogenetics combines two disciplines, molecular biology and cytogenetics, and involves the analysis of chromosome structure to help distinguish normal and cancer-causing cells.
Walter Sutton (left) and Theodor Boveri (right) independently developed different parts of the chromosome theory of inheritance in 1902.. The Boveri–Sutton chromosome theory (also known as the chromosome theory of inheritance or the Sutton–Boveri theory) is a fundamental unifying theory of genetics which identifies chromosomes as the carriers of genetic material.