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Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. [10] These complications commonly include infertility and small, poorly functioning testicles (if present).
The X and Y sex chromosomes are different in shape and size from each other, unlike the rest of the chromosomes , and are sometimes called allosomes. In some species, such as humans, organisms remain sex indifferent for a time during development ( embryogenesis ); in others, however, such as fruit flies, sexual differentiation occurs as soon as ...
Offspring have two sex chromosomes: an offspring with two X chromosomes (XX) will develop female characteristics, and an offspring with an X and a Y chromosome (XY) will develop male characteristics, except in various exceptions such as individuals with Swyer syndrome, that have XY chromosomes and a female phenotype, and de la Chapelle Syndrome ...
In the absence of a Y chromosome, the fetus will undergo female development. This is because of the presence of the sex-determining region of the Y chromosome, also known as the SRY gene. [5] Thus, male mammals typically have an X and a Y chromosome (XY), while female mammals typically have two X chromosomes (XX).
Of these 23 pairs of chromosomes, 22 are autosomes, and one is a sex chromosome. [1] There are two kinds of sex chromosomes–X and Y. In humans and in almost all other mammals, females carry two X chromosomes, designated XX, and males carry one X and one Y, designated XY. [1] A human egg contains only one set of chromosomes (23) and is a ...
The 23rd pair of chromosomes are called allosomes. These consist of two X chromosomes in females, and an X chromosome and a Y chromosome in males. Females therefore have 23 homologous chromosome pairs, while males have 22. The X and Y chromosomes have small regions of homology called pseudoautosomal regions.
When additional X and/or Y chromosomes are present in 48,XXXY, 48,XXYY, or 49,XXXXY, developmental delays and cognitive difficulties can be more severe and mild intellectual disability may be present. Klinefelter syndrome can also result from an extra X chromosome in only some of the body's cells. These cases are called mosaic 46,XY/47,XXY ...
Klinefelter syndrome (47,XXY and XXY syndrome) – a condition that describes a male born with at least one extra X chromosome. Though the most common variation is 47,XXY, a man may also be 48,XXXY or 49,XXXXY. It is a common occurrence, affecting 1 in 500 to 1,000 men. [44]