Brainscape's Knowledge GenomeTM

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


See full index

Biochem V > Birth Defects > Flashcards

Birth Defects Flashcards

1
Q

What is synpolydactyly?

A

extra digits that are fused with other digits

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

What are two types of txn factors?

A

specific and unspecific

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

The HOX family of genes is important for what?

A

patterning along the anterior-posterior border

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

What are the late HOX genes, 11 to 13, involved in?

A

development of the distal pole of the limbs

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

What is a morphogen?

A

substance secreted by cells in one part of the embryo

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

Where is Shh secreted from?

A

notochord and floor plate of neural tube

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

A defect in Shh secretion leads to what?

A

midline defects

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

What developmental protein must interact with cholesterol to function?

A

Shh

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

What disease features an impairment of Shh function due to a defect in cholesterol biosynthesis?

A

Smith-Lemli-Opitz Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What two genes are involved in detecting fluid flow in the developing kidney?

A

polycystin 1 and polycystin2

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

What do defects in polycystin 1 and 2 cause? What disease develops?

A

patient to not polarize cells and cysts to develop

polycystic kidney disease types 1 and 2

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

Where does development of the CNS begin from?

A

neural tube

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

What gene interferes with migration of neural cells?

A

LIS1

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

What condition results from defects in the LIS1 gene?

A

lissencephaly

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

What is true hermaphroditism?

A

patient has both testes and ovarian tissue

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

What is pseudohermaphroditism?

A

pts have either testes or ovarian tissue but the phenotype does not represent the sex

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Where is the testes determining factor located?

A

SDR of the Y chromosome (SRY)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What happes if SRY is deleted on the Y chromosome?

A

female with XY karyotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What happes if SRY is translocated to the X-chromosome?

A

the embryo develops into a male with an XX karyotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are female pseudohermaphrodites?

A

normal ovaries but ambiguous or male genitalia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is the most common cause for female pseudohermaphroditism?

A

congenital adrenal hyperplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

CAH often involves a defect in what enzyme?

A

21-hydroxylase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What does a defect in 21-hydroxylase result in?

A

block in cortisol synthesis with intermediates being shunted into androgen synthesis pathways

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Where/when do specific txn factors function?

A

specific cells at specific times

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

HOX 11-13 are involved in what?

A

development of the distal pole of the limbs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Where is Shh secreted from?

A

notochord and floor plate (of developing neural tube)

27
Q

Where does Shh diffuse to?

A

ventral side of body

28
Q

Where does Shh influence cell development?

A

brain and spinal cord

29
Q

A defective Shh leads to inability to develop what two structures?

A

midface and forebrain

30
Q

Other than the notochord and floor plate, where else is Shh secreted from?

A

developing limb

31
Q

At the developing limb, what does Shh secretion induce?

A

posterior limb elements

32
Q

What compound must Shh interact with to function properly?

A

cholesterol

33
Q

How does Smith-Lemli-Opitz affect Shh signaling?

A

it is a cholesterol biosynthesis condition

34
Q

Defects in polycystin 1 or 2 impede a cells ability to sense what?

A

fluid flow

35
Q

How do epithelial kidney tubules become polarized?

A

sensing fluid flow

36
Q

A genetic defect in polycystin 1 or polycystin 2 results in what disease?

A

polycystic kidney disease

37
Q

Where does development of the CNS occur?

A

neural tube

38
Q

What gene is involved in the orderly migration of cerebral cortex cells?

A

LIS1

39
Q

What five tissues require apoptosis for their development?

A

heart, digits, anus, uterus/vagina, immune system

40
Q

What is true hermaphroditism?

A

patient has both testes and ovarian tissue

41
Q

What is pseudohermaphroditism?

A

patient has testes or ovaries but their phenotype does not match their genetic makeup

42
Q

What part of the Y chromosome drives male development?

A

Sex-determining region of Y (SRY)

43
Q

Within the SRY, what gene determines male development?

A

Testes Determining Factor (TDF)

44
Q

What happens if the SRY is deleted?

A

embryo develops in an XY female

45
Q

What happens if SRY is translocated onto the X chromosome?

A

XX, male

46
Q

Female pseudohermaphrodites possess what?

A

normal ovaries but ambiguous or male genitalia

47
Q

What is the most common cause for female pseudohermaphroditism?

A

congenital adrenal hyperplasia

48
Q

Congenital adrenal hyperplasia is caused by what defective enzyme?

A

21-beta-hydroxylase

49
Q

The production of what product involves 21-hydroxylase?

A

cortisol

50
Q

With a block in synthesis, where do cortisol substituents get shunted to?

A

production of androgens

51
Q

The development of male sex characteristics are driven by what?

A

androgens

52
Q

What enzyme can be implicated in the lack of development of male sex characteristics?

A

5-alpha-reductase

53
Q

What is androgen insensitivity syndrome?

A

deficiency in androgen receptor production

54
Q

What does the tumor progenitor model predict?

A

epigenetic programming errors lay the seed for cancer later in life

55
Q

What do high concentrations of Shh induce? Low concentration?

A

high = floor plate

low = motor neurons

56
Q

A defect in CREB results in what disease?

A

Rubinstein Taybi

57
Q

Renal tubules polarize by moving what receptor?

A

EGFR

58
Q

Where does development of the CNS begin from?

A

neural tube

59
Q

Neuronal precursor cells begin their migration from where? What do they use as a scaffold for migration?

A

ventricles

glial cells

60
Q

Where is the testis determining factor located?

A

SRY

61
Q

What is the most common cause for female pseudohermaphroditism?

A

congenital adrenal hyperplasia

62
Q

What enzyme is often absent in male pseudohermaphroditism?

A

5-alpha reductase

63
Q

Why does a deficiency in 5-alpha reductase cause male pseudohermaphroditism?

A

lack of androgen production

Biochem V (11 decks)

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