Sex Chromosome Disorders

Question 0

What are examples of sex chromosome disorders?

Answer 0

Turners Syndrome 45, X
Klinefelter's Syndrome-47, XXY
47, XYY or 47, XXX
46, XY Female
46, XX Male
Androgen insensitive 46, XY Male

Question 1

What are characteristics of sex chromosome disorders?

Answer 1

• incidence: XXX (1/1000 females), XXY (1/1000 males), XYY (1/1000 males)
• ~10 IQ deficit, learning disability
• over representation in mental hospitals and prisons

Question 2

In what sex chromosome disorder is there an absence of paternal X or Y, or mosaic haploinsufficiency of SHOX gene (Xpter-p22.32)

Answer 2

Turner’s Syndrome-45, X

Question 3

What sex chromosome disorder has a 0% recurrence risk?

Answer 3

Turner’s Syndrome-45, X

Question 4

What sex chromosome disorder has the following phenotype:
- streak ovaries, aortic coarctation. Newborns: edema of hands and feet, web neck. Adolescents: lack of puberty and short stature

Answer 4

Turner’s Syndrome-45, X

Question 5

What sex chromosome disorder has the following treatments:

- growth hormone therapy, hormone replacement therapy, pregnancy with donor eggs and IVF

Answer 5

Turner’s Syndrome-45, X

Question 6

What sex chromosome disorder occurs 1/5000 births, 80% due to paternal error, FISH test for Y chromosome material?

Answer 6

Turner’s Syndrome-45, X

Question 7

What sex chromosome disorder is caused by maternal nondisjunction at meiosis 1?

Answer 7

Klinefelter’s Syndrome-47, XXY

Question 8

What sex chromosome disorder has the following phenotype:
- small firm testicles, tall, long legs, gynecomastia (same breast cancer risk as women), hypogonadism, azospermia, as X’s increase mental retardation increases

Answer 8

Klinefelter’s Syndrome-47, XXY

Question 9

What sex chromosome disorder occurs in 1/1000 males and leads to infertility?

Answer 9

Klinefelter’s Syndrome-47, XXY

Question 10

What sex chromosome disorder is caused by paternal nondisjunction at meiosis 2 or maternal nondisjunction at meiosis 1?

Answer 10

47, XYY or 47, XXX

Question 11

What sex chromosome disorder has the following phenotype:

- normal unless high stress environment, slight learning disability, may be conduct disorder

Answer 11

47, XYY or 47, XXX

Question 12

What sex chromosome disorder is caused by pseudoautosomal recombination resulting in loss of SRY on cY?

Answer 12

46, XY Female

Question 13

The following phenotype is characteristic of what sex chromosome disorder:
- short stature, streak gonads/infertility

Answer 13

46, XY Female

Question 14

In what sex chromosome disorder does the FISH probe detect SRY gene?

Answer 14

46, XY Female

Question 15

What sex chromosome disorder is caused by pseudoautosomal recombination resulting in gain of SRY on cX?

Answer 15

46, XX Male

Question 16

What sex chromosome disorder is caused by an absence of androgen receptors?

Answer 16

Androgen Insensitive 46, XY Male

Question 17

What sex chromosome disorder has the following phenotype:

- external female genitalia, blind vagina, no uterus, undescended testes

Answer 17

Androgen Insensitive 46, XY Male

Question 18

In what sex chromosome disorder is gender assignment a possible treatment?

Answer 18

Androgen Insensitive 46, XY Male