What does it mean if a karyotype is 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.

How many chromosomes does a person have that has 47,XXY?

Klinefelter syndrome (KS) is a genetic condition where there’s an extra X chromosome present in a male’s genetic code. Instead of having a total of 46 chromosomes, they have 47 — with two copies of the X chromosome and one copy of the Y chromosome (47,XXY).

Where can I get tested for Klinefelter’s syndrome?

If you or your son is diagnosed with Klinefelter syndrome, your health care team may include a doctor who specializes in diagnosing and treating disorders involving the body’s glands and hormones (endocrinologist), a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine or …

How do you know if you have Klinefelter’s syndrome?

Signs and symptoms may include:

Taller than average stature.
Longer legs, shorter torso and broader hips compared with other boys.
Absent, delayed or incomplete puberty.
After puberty, less muscle and less facial and body hair compared with other teens.
Small, firm testicles.
Small penis.
Enlarged breast tissue (gynecomastia)

Is it possible to have an XY female in humans?

Swyer syndrome is sometimes called 46,XY complete gonadal dysgenesis; the medical term “dysgenesis” indicates that development (in this condition, development of the gonads) is reduced and not typical. People with Swyer syndrome are usually raised as girls and have a female gender identity.

What is Morris syndrome?

The Morris syndrome is a X-linked recessive condition due to a complete or partial insensitivity to androgens, resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals.

How is 47, XXY different from 46, XY?

In general male babies and young boys with 47, XXY are not very different from babies and young boys with 46, XY. Some may have slightly longer legs, weaker muscles, delayed development of motor skills, and learning and/or language problems. Puberty and adulthood is when differences may become more clear.

What are the signs and symptoms of 47, XXY?

Some people with 47, XXY may have no noticeable signs or symptoms (features) or only mild features. Others may have more moderate to severe features. [1] [2] Common symptoms of 47, XXY include low testosterone, infertility, speech and language problems, and learning difficulties.

What should I do if I have 47, XXY?

A discussion about testosterone therapy with a pediatric endocrinologist is advised, even if the person with 47, XXY does not identify as male. Other features of 47, XXY may be managed by early intervention, speech therapy, occupational therapy, physical therapy, extra help in school, counseling, and social skills training.

What does 47, XXY stand for in medical terms?

47, XXY refers to the presence of an additional X chromosome in a person’s body cells. Some individuals who are 47, XXY do not appear any different from non-XXY individuals, and they may have mild symptoms or no apparent symptoms. During the first few years of life, most 47, XXY individuals do not show any obvious differences from typical infants.

What does it mean if a karyotype is 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. How many chromosomes does a person have that has 47,XXY? Klinefelter…