What is the genotype of a person having Klinefelter syndrome?

What is the genotype of a person with Klinefelter syndrome?

In Klinefelter syndrome, the person has an extra X chromosome which results in three sex chromosomes (2X chromosomes and a Y chromosome). This results in a genotype of 44 + XXY or 47 chromosomes.

What is the genotype of XXY?

Usually, a female baby has 2 X chromosomes (XX) and a male has 1 X and 1 Y (XY). But in Klinefelter syndrome, a boy is born with an extra copy of the X chromosome (XXY). The X chromosome is not a “female” chromosome and is present in everyone. The presence of a Y chromosome denotes male sex.

Is XXY genotype possible?

Males with XXY syndrome are born with cells that have an extra X chromosome, or XXY. This can cause delayed development and puberty, a smaller penis and testicles, infertility, and other symptoms. The condition that causes XXY syndrome is present at birth and can’t be changed.

What type of genetic mutation is Klinefelter syndrome?

Klinefelter syndrome can be caused by: One extra copy of the X chromosome in each cell (XXY), the most common cause. An extra X chromosome in some of the cells (mosaic Klinefelter syndrome), with fewer symptoms. More than one extra copy of the X chromosome, which is rare and results in a severe form.

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What does having 47 chromosomes mean?

A trisomy is a chromosomal condition characterised by an additional chromosome. A person with a trisomy has 47 chromosomes instead of 46. Down syndrome, Edward syndrome and Patau syndrome are the most common forms of trisomy.

What is Klinefelter syndrome karyotype 47,XXY?

Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning.

Can a girl have XY chromosomes?

The X and Y chromosomes are called “sex chromosomes” because they contribute to how a person’s sex develops. Most males have XY chromosomes and most women have XX chromosomes. But there are girls and women who have XY chromosomes. This can happen, for example, when a girl has androgen insensitivity syndrome.

How do you get XXY chromosomes?

What Causes Klinefelter Syndrome? You get the extra X chromosome by chance. Either the egg or the sperm that came together to create you had an extra X chromosome. Older women have a slightly higher chance of having a boy with XXY syndrome, but the chance is small.

How do you test for XXY chromosomes?

Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. Chromosome analysis. Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. A blood sample is sent to the lab to check the shape and number of chromosomes.