Trisomy stuff

Question 1

With what chromosomes is the Robertsonian translocation associated with???

Answer 1

Acrocentric chromosomes- 13,14,15,21,22

Question 2

Robertsonian translocations in a parent can cause what trisomy to the offspring?

Answer 2

Trisomy 15, Trisomy 21

Question 3

What type of segregation is when there are 2 normal or 2 abnormal chromosomes in gamete> all genes normal> normal phenotype?

Answer 3

Alternate segregation

Question 4

What type of segregation is it when you have 1 normal & 1 abnormal chromosome in gamete> somethings not right> abnormal phenotype?

Answer 4

Adjacent Segregation

Question 5

SRY gene determines WHAT?

Answer 5

determines if you are a MALE

Question 6

XX MALE is a result of what syndrome?

Answer 6

Klinefelter-Like

Question 7

What happens in Klinefelter syndrome?

Answer 7

SRY determinant is present on the X but extra X

Question 8

Gonadal dysgenesis; missing second X needed for full development, NO SRY on Y> NO male development results in XX male or XY female?

Answer 8

XY female

Question 9

Male w/ xtra X chromosome is associated with what syndrome?

Answer 9

Klinefelter Syndrome

Question 10

What is the Karyotype for Klinefelter Syndrome?

Answer 10

47, XXY

Question 11

Male w/ xtra chromosome, excess gene products, Tall stature, infertile, small testes, gynecomastia are characteristics of what syndrome?

Answer 11

Klinefelter Syndrome

Question 12

Monosomy for the X chromosome with Karyotype: 45, X (female has only 1 X)

Answer 12

Turner syndrome

Question 13

What is TRIPLOIDY a result of?

Answer 13

DISPERMY

Question 14

What is ANEUPLOISY a result of?

Trisomy 13, 18 21

Answer 14

NONDISJUNCTION

Question 15

Is MONOPLOIDY common in humans?

Answer 15

NO

Question 16

How many chromosomes does someone have in MONOPLOIDY?

Answer 16

23, not humanly possible, DOES NOT exist

Question 17

Aneuploidy is the ____ or ____ of specific chromosomes

Answer 17

LOSS, GAIN

Question 18

What are TWO types of Aneuploidy?

Answer 18

TRISOMY (gain of an xtra chromosome), MONOSOMY(loss of one chromosome)

Question 19

What are the three types of trisomies?

Answer 19

Trisomy 13, 18, 21

Question 20

Which trisomy is more common?

Answer 20

Trisomy 21 (DOWN SYNDROME)

Question 21

Where does the non-disjunction happen in Trisomy 21?

Answer 21

at the 21 chromosome

Question 22

What percent of DOWN SYNDROME is the result from the ROBERTSONIAN translocation?

Answer 22

5%

Question 23

What’s another name for TRISOMY 18?

Answer 23

EDWARD syndrome

Question 24

Does a baby with Trisomy 18 live long?

Answer 24

NO, most common abnormality among stillborns

Question 25

What is another name for Trisome 13?

Answer 25

Patau syndrome

Question 26

Does a baby with Trisomy 13 syndrome live long?

Answer 26

NO, post-natal survival rate similar to Trisome 18(Edward syndrome)

Question 27

Is ROBERTSONIAN Translocation seen of Edward syndrome (a.k.a Trisomy 18)?

Answer 27

NOOOO

Question 28

What percent of Trisomy 13 (Patau Syndrome) is the result from the ROBERTSONIAN translocation?

Answer 28

5%

Question 29

What are two types of Translocations in an abnormal chromosome?

Answer 29

Reciprocal translocation

Robertsonian translocations