Sex Chromosome Disorders Flashcards Preview

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Flashcards in Sex Chromosome Disorders Deck (19):
0

What are characteristics of sex chromosome disorders?

- 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

1

What are examples of sex chromosome disorders?

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

2

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

Turner's Syndrome-45, X

3

What sex chromosome disorder has a 0% recurrence risk?

Turner's Syndrome-45, X

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

Turner's Syndrome-45, X

5

What sex chromosome disorder has the following treatments:
- growth hormone therapy, hormone replacement therapy, pregnancy with donor eggs and IVF

Turner's Syndrome-45, X

6

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

Turner's Syndrome-45, X

7

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

Klinefelter's Syndrome-47, XXY

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

Klinefelter's Syndrome-47, XXY

9

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

Klinefelter's Syndrome-47, XXY

10

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

47, XYY or 47, XXX

11

What sex chromosome disorder has the following phenotype:
- normal unless high stress environment, slight learning disability, may be conduct disorder

47, XYY or 47, XXX

12

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

46, XY Female

13

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

46, XY Female

14

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

46, XY Female

15

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

46, XX Male

16

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

Androgen Insensitive 46, XY Male

17

What sex chromosome disorder has the following phenotype:
- external female genitalia, blind vagina, no uterus, undescended testes

Androgen Insensitive 46, XY Male

18

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

Androgen Insensitive 46, XY Male