What kind of mutation causes 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.

What happens if you have an XXY chromosome?

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.

How many types of Klinefelter syndrome are there?

Several conditions resulting from the presence of more than one extra sex chromosome in each cell are sometimes described as variants of Klinefelter syndrome. These conditions include 48,XXXY syndrome, 48,XXYY syndrome, and 49,XXXXY syndrome.

What is genotype XXY?

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.

Is Klinefelter syndrome trisomy or monosomy?

While a trisomy can occur with any chromosome, the condition is rarely viable. The major chromosomal aneuploidies are trisomy 13, trisomy 18, Turner Syndrome (45, X), Klinefelter syndrome (47, XXY), 47XYY, and 47XXX.

What is an XXY baby?

Klinefelter syndrome (sometimes called Klinefelter’s, KS or XXY) is where boys and men are born with an extra X chromosome. Chromosomes are packages of genes found in every cell in the body. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby.

CAN XXY be 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.

What is phenotype of XXY?

Introduction. Klinefelter syndrome (KS) (47,XXY) occurs in ∼1 in 650 males, and is associated with a physical phenotype that can include tall stature, hypogonadism, and fertility problems.

CAN XXY have periods?

The experience of having a period can vary hugely from person to person, and this true for those who are intersex as well! Just remember there is no normal, only what is ‘normal’ for your own body. Somebody who has typically female organs but typically male appearance features, may also have periods.

Can you have an XXY as a female?

Background: Males with a 47,XXY karyotype have the clinical phenotype of Klinefelter syndrome. A few 47,XXY cases with a female phenotype have been reported. These individuals have positive SRY (testis-determining factor). The genetic explanation of this phenomenon is unclear.

Is Klinefelter’s dominant or recessive?

Klinefelter syndrome with fabry disease–a case of nondisjunction of the X-chromosome with sex-linked recessive mutation.

Can a person be born with XXY?

More to Know 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.

Are people with XXY intersex?

Therefore, according to the NZKA, not all XXY individuals will develop Klinefelter Syndrome, for the Syndrome is simply a form of male hypogonadism, caused by a lack of testosterone: thus XXY is not an intersex condition.

CAN XXY males have children?

Most boys with Klinefelter syndrome can have sex when they become men, usually with the help of testosterone treatment. But problems with their testicles prevent them from making enough normal sperm to father children. Most men with the condition are infertile and can’t father a child the usual way.

Does Klinefelter syndrome affect mental health?

Patients with Klinefelter syndrome have a higher burden of psychiatric conditions, especially depression, anxiety, schizophrenia and psychosis, than the general population. Adolescents are described as being sensitive, introspective and unassertive.

What is XXY chromosome?

XXY chromosomes are a naturally occurring human male variation. XXY men are identical in physical appearance and mental capacity to XY men. • XXY = male.

What are X&Y chromosomal variations?

X & Y Chromosomal Variations are a neurogenetic disorder referred to by many other names, including Sex Chromosome Disorders, X & Y Chromosomal Variations, Sex Chromosome Anomaly, and Sex Chromosome Aneuploidy Variations. (Aneuploidy refers to a number of chromosomes besides 46, the standard number in humans.)

What are the different types of chromosome mutations?

Chromosome Mutations 1 Duplication. Anaphase in an onion root tip. Since sister chromatids are exact copies of each other, if they do not split down the middle, then some genes are duplicated on 2 Deletion. Crossing Over. 3 Translocation. Chromosome mutation. 4 Inversion. Chromosomes from a human male.

How common is 47 XXY syndrome?

Only 25% of males with 47,XXY are ever diagnosed during their lifetimes; fewer than 10% of 47,XXY individuals are identified prior to adolescence. This means that millions of affected children remain undiagnosed–often because they are commonly misdiagnosed as simply having speech or motor delays.