What is the difference between XY and 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.
What is the significance of having an extra Y chromosome?
The extra X and/or Y chromosome can affect physical, developmental, behavioral, and cognitive functioning. Common physical features may include tall stature, lack of secondary pubertal development, small testes (hypogonadism), delayed pubertal development, and breast development (gynecomastia) in late puberty.
What is the superman syndrome?
The Superman syndrome occurs when males receive an extra Y chromosome at conception, creating an XYY combination. This results in a male baby born with the XYY syndrome, which is a random occurrence due to the sperm cell’s formation before conception occurs.
How is Swyer syndrome classified?
Swyer syndrome is classified as a disorder of sex development (DSD), which encompasses any disorder in which chromosomal, gonadal or anatomic sex development is abnormal. Girls with Swyer syndrome have an XY chromosomal makeup (as boys normally do) instead of an XX chromosomal makeup (as girls normally do).
How does Swyer syndrome affect sex development?
Swyer syndrome is a condition that affects sex development. Sex development usually follows a particular path based on an individual’s chromosomes; however, in Swyer syndrome, sex development is not typical for the affected individual’s chromosomal pattern. People usually have 46 chromosomes in each cell.
What is the genetic cause of Swyer syndrome?
Investigators have linked other cases of Swyer syndrome to mutations of the desert hedgehog ( DHH) gene located on chromosome 12. Mutations in the DEAH37 gene have been identified as a common cause.
What is the karyotype of a girl with Swyer syndrome?
Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men usually have one X chromosome and one Y chromosome ( 46,XY karyotype ). In Swyer syndrome, individuals with one X chromosome and one Y chromosome in each cell, the pattern typically found in boys and men, have female reproductive structures.