What is Mosaic XXY?

What is Mosaic XXY?

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.

What is 48 XXY chromosome disorder?

Collapse Section. 48,XXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals.

Is 47 XXY male or female?

Generally, individuals possessing 47, XXY karyotype have male phenotype. However, in the present case in spite of the presence of Y chromosome and the normal SRY, SOX9, and ZFY genes, the individual has a female phenotype.

How common is Mosaic Klinefelter syndrome?

On the other hand, 47 XXY/46 XX mosaicism with characteristics suggesting Klinefelter syndrome is very rare and to date, only seven or slightly more cases have been reported in the literature (1, 2).

What is karyotype 46 XY?

A 46, XY disorder of sex development (DSD) is a condition in which an individual with one X chromosome and one Y chromosome in each cell , the pattern normally found in males, have genitalia that is not clearly male or female.

Can someone have XXY chromosomes?

Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. Instead of the typical XY chromosomes in men, they have XXY, so this condition is sometimes called XXY syndrome. Men with Klinefelter usually don’t know they have it until they run into problems trying to have a child.

What happens if you have 46 chromosomes?

These changes can occur during the formation of reproductive cells (eggs and sperm), in early fetal development, or in any cell after birth. A gain or loss in the number of chromosomes from the normal 46 is called aneuploidy. A common form of aneuploidy is trisomy, or the presence of an extra chromosome in cells.

What happens when you have 47 chromosomes?

Humans have 23 pairs of chromosomes. 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.

How many sexes are there?

Based on the sole criterion of production of reproductive cells, there are two and only two sexes: the female sex, capable of producing large gametes (ovules), and the male sex, which produces small gametes (spermatozoa).

Which parent is responsible for Klinefelter syndrome?

Klinefelter syndrome is not caused by anything the parents did or did not do. The disorder is a random error in cell division that happens when a parent’s reproductive cells are being formed.

Can Klinefelter syndrome be cured?

There’s no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. Possible treatments include: testosterone replacement therapy. speech and language therapy during childhood to help with speech development.

Is 46, XY a hermaphrodite?

The person has the chromosomes of a man, but the external genitals are incompletely formed, ambiguous, or clearly female. Internally, testes may be normal, malformed, or absent. This condition is also called 46, XY with undervirilization. It used to be called male pseudohermaphroditism.