Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

ABGC > Misc. 3 > Flashcards

Misc. 3 Flashcards

1
Q

What percentage of male infertility is accounted for by chromosomal abnormalities?

A

5%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the 4 chromosomes involved in Robertsonian translocation Down syndrome (along with 21)?

A

14, 22, 13, 15

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

If a woman has a 14;21 Robertsonian translocation, what is the risk to have a liveborn baby with T21?

A

10%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

If a man has a 14;21 Robertsonian translocation, what is the risk to have a liveborn baby with T21?

A

2.5%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What percentage of prelingual hearing loss has a genetic origin?

A

50 - 60%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Is prelingual hearing loss more commonly of AD or AR inheritance?

A

AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Is postlingual hearing loss more commonly of AD or AR inheritance?

A

AD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Is genetic hearing loss usually syndromic or non-syndromic?

A

non-syndromic (70% of cases)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Tetralogy of Fallot
features
cause(s)

A

CHD w/4 defects and cyanosis

  • VSD
  • pulmonary stenosis
  • right ventricular hypertrophy
  • overriding aorta
  • more common with T21 and DiGeorge
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

marker chromosome

A

a small chromosome containing a centromere which often exists in a mosaic state and may or may not create an imbalance and result in abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

pleiotropy

A

when one gene influences multiple, seemingly unrelated, phenotypic traits

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Caudal regression on ultrasound is most likely indicative of:

A

maternal diabetes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Which conditions involve CAG repeat expansion?

A
  • Huntington’s

- Spinocerebellar ataxia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Fragile X repeat

A

CGG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Myotonic dystrophy repeat

A

CTG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Friedrich repeat

A

GAA

17
Q

Which of the repeat disorders involve the coding region of a gene?

A
  • Huntington’s

- Spinocerebellar ataxia

18
Q

What is the pattern of PAPP-A throughout pregnancy?

A

starts at week 8, rises throughout

19
Q

What is the pattern of hCG throughout pregnancy?

A

increases early, decreases over weeks 10-20

20
Q

What is the pattern of uE3 throughout pregnancy?

A

rises throughout

21
Q

What is the pattern of INH throughout pregnancy?

A

constant over weeks 15-20

22
Q

What is the pattern of AFP throughout pregnancy?

A

increases until week 30-32, then decreases

23
Q

Which analyte is decreased by smoking?

A

uE3

24
Q

Which analyte is increased in diabetics and the overweight?

A

AFP

25
Q

What are the features of a diandric triploid embryo?

A

normal growth; abnormally large, cystic placenta

26
Q

What are the features of a digynic triploid embryo?

A

asymmetric IUGR; adrenal hypoplasia; small placenta

ABGC (34 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions