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Turner syndrome (X)

Turner syndrome is a chromosomal condition that affects development. Females typically have two X chromosomes, but in individuals with Turner syndrome, one copy of the X chromosome is missing or altered. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. Reduced functioning of the ovaries, the female […]

XXYY Syndrome

In this variation, someone is born with an extra copy of both an X and Y chromosome, resulting in a 48XXYY chromosome pattern instead of the typical 46XY. People with XXYY chromosomes may often have undescended testes and produce lower-than-typical amounts of testosterone, which can cause them to start puberty later than typical and to […]