INHERITED DISEASE II

Question 1

What is another name for Trisomy X

Answer 1

Triple X syndrome

Question 2

What are some of the intellectual and developmental challenges associated with Trisomy X

Answer 2

Individuals with Trisomy X are at high risk of learning disabilities and delayed development of speech and language skills, as well as motor skills (such as sitting and walking).

Question 2

What causes Trisomy X

Answer 2

Trisomy X is caused by an extra X-chromosome due to an error in embryo development.

Question 3

What are some physical and behavioral symptoms of Trisomy X?

Answer 3

Physical and behavioral symptoms can include weak muscle tone, behavioral and emotional difficulties, seizures, and kidney defects

Question 3

What genetic testing method can be used to diagnose Trisomy X?

Answer 3

Karyotype genetic testing can be done to diagnose Trisomy X

Question 4

What developmental delays are commonly seen in individuals with Trisomy X

Answer 4

Delayed development of speech and language skills, as well as motor skills such as sitting and walking.

Question 4

What additional health issues might individuals with Trisomy X face?

Answer 4

Individuals with Trisomy X might face seizures and kidney defects.

Question 5

What is another name for Klinefelter syndrome?

Answer 5

XXY Syndrome

Question 5

What causes Klinefelter syndrome?

Answer 5

Klinefelter syndrome is caused by a random genetic error after conception that results in a male being born with an extra X-chromosome.

Question 6

What is Turner syndrome and how does it affect development in females?

Answer 6

Turner syndrome is a chromosomal condition that affects development in females, resulting from a missing or incomplete sex chromosome.

Question 6

How does Klinefelter syndrome typically affect adult males?

Answer 6

Adult males with Klinefelter syndrome typically have small testes, produce a reduced amount of testosterone, have a low sex drive, experience problems getting or keeping an erection, and have little to no sperm count.

Question 6

What are the reproductive issues associated with Klinefelter syndrome?

Answer 6

Reproductive issues include low testosterone production, low sex drive, erectile dysfunction, and little to no sperm count

Question 7

What is the typical chromosomal pattern found in individuals with Klinefelter syndrome?

Answer 7

Individuals with Klinefelter syndrome have an XXY chromosomal pattern.

Question 8

What causes Turner syndrome?

Answer 8

Turner syndrome is caused by the presence of a missing or incomplete sex chromosome

Question 9

What is the most common feature of Turner syndrome, and at what age does it typically become evident?

Answer 9

The most common feature is short stature, which becomes evident by about age 5.

Question 10

How does Turner syndrome affect ovarian function?

Answer 10

Turner syndrome leads to an early loss of ovarian function, where the ovaries develop normally at first but oocytes usually die prematurely

Question 10

Why do many girls with Turner syndrome not undergo puberty naturally?

Answer 10

Many girls with Turner syndrome do not undergo puberty naturally because of the early loss of ovarian function and the resulting lack of hormone production.

Question 11

What is the primary treatment to induce puberty in girls with Turner syndrome?

Answer 11

The primary treatment to induce puberty in girls with Turner syndrome is hormone therapy

Question 11

What percentage of females with Turner syndrome retain normal ovarian function through young adulthood?

Answer 11

A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.

Question 12

Explain why most females with Turner syndrome are unable to conceive.

Answer 12

Most females with Turner syndrome are unable to conceive because of the early loss of ovarian function, which leads to infertility.