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The abnormal cells may have only one X (45,X) or they may be affected by one of several types of partial monosomy like a deletion of the short p arm of one X chromosome (46,X,del(Xp)) or the presence of an isochromosome with two q arms (46,X,i(Xq)) [70] Turner syndrome has distinct features due to the lack of pseudoautosomal regions, which are ...
Sex chromosome anomalies belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of one or both sex chromosomes (also called gonosomes). In humans this may refer to: 45, X, also known as Turner syndrome; 45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis; 46, XX/XY
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.).
In 45,X/46,XY, most or all of the Y chromosome is lost in one of the newly created cells. All the cells then made from this cell will lack the Y chromosome. All the cells created from the cells that have not lost the Y chromosome will be XY. [11] The 46,XY cells will continue to multiply at the same time as the 45,X cells multiply.
Most spiders have a variation of the XO system in which males have two different X chromosomes (X 1 X 2 O), while females have a pair of X 1 chromosomes and a pair of X 2 chromosomes (X 1 X 1 X 2 X 2). [1] Some spiders have more complex systems involving as many as 13 different X chromosomes. [1] Some Drosophila species have XO males. [10]
Although generally milder, 46,XX/47,XXX mosaicism is associated with a higher risk of chromosome anomalies in offspring than full trisomy X. [23] The increased risk of abnormal offspring in mosaicism has been hypothesized to be a consequence of oocyte abnormality in 46,XX/47,XXX women not seen in full 47,XXX. Some writers have recommended women ...
The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome, yielding a total of 47 or more chromosomes rather than the usual 46. Klinefelter syndrome occurs randomly. The extra X chromosome comes from the father and mother nearly equally.
The SRY gene, normally found on the Y chromosome, plays an important role in sex determination by initiating testicular development. In about 80 percent of XX males, the SRY gene is present on one of the X chromosomes. [16] [25] The condition results from an abnormal exchange of genetic material between chromosomes (translocation).