Karyotype
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Karyogram of human male using Giemsa staining.A karyotype is a standardized arrangement of all the chromosomes of a cell. In normal diploid organisms, autosomal chromosomes are present in two identical copies, although polyploid cells have multiple copies of chromosomes and haploid cells have single copies. The chromosomes are arranged and displayed (often on a photo) in a standard format known as an idiogram: in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotypes are used to study chromosomal aberrations, and may be used to determine other macroscopically visible aspects of an individual's genotype, such as sex. In order to be able to see the chromosomes and determine their size and internal pattern, they are chemically labelled with a dye ("stained"). The pattern of individual chromosomes is called chromosome banding, whereas the study of whole sets of chromosomes is known as karyology.
Normal human karyotypes contain 22 pairs of autosomal chromosomes and one pair of sex chromosomes. Normal karyotypes for women contain two X chromosomes and are denoted 46,XX; men have both an X and a Y chromosome denoted 46,XY. However, some individuals have other karyotypes with added or missing sex chromosomes, including 47,XYY, 47,XXY, 47,XXX and 45,X. The karyotype 45,Y does not occur, as an embryo without an X chromosome cannot survive.
2006-11-20 22:06:06
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answer #1
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answered by Lorene 4
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1) Those disorders which either have entire chromosomes which are duplicated or deleted Trisomies (extra chromosome) such as Patau (chr 13), Edward (chr 18), Downs (chr 21), Klinefelter Syndrome (extra X with a final karyotype of XXY), and Turner's Syndrome (Single X in female instead of 2) 2) chromosomal disorders which have large segments of the genome which are deleted or duplicated 3) chromosomal disorders which have translocations (a piece of the chromosome moves to another chromosome). The size of the translocated region would need to exceed 5MB 4) Chromosomal disorders which have large segments inverted (as if the DNA segment has been turned up-side-down and inserted back into the chromosome)
2016-03-29 03:59:22
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answer #2
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answered by Marie 4
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