Birth Defects Flashcards Preview

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Flashcards in Birth Defects Deck (22):
1

what are the 2 calsses of transcription factors

unspecirfic
specific

2

unspecific transcription factors

found in thousands of transcriptional complexes

3

specific transcription factors

only function in specific cells at a specific time

4

what are transcription factors of HOX family involved in

patterning along the anterior posterio axis

5

mutations in HOXA13 disturb what

development of fingers and toes

6

morphogen

sustance secreted by cells in one part of the embryo

7

example of an important developmental morphgen

sonic hedgehog protein

8

where is Shh secreted from

notochrord and floorplate of developing neural tube

9

mutation affecting Shh signalling leads to waht

midline defects

10

what happens if yo utransplant a Shh secreting cell to anterior pole of limb

formation of posterioe elements at the anteior pole

11

for correct functioning the Shh protein has to interact with what

choelsterol

12

what causes smith-lemli-opitz syndrome

impairment of Shh signalling secondary to defect in choelsterol biosynthesis

13

symptom of smith lemi opitx syndrome

servere congenital malfromations

14

what happens if yo uhave a mutatio nof the LIS1 gene

lissencepharly, severe mental retardation

15

why is programmed cell death important in development

heart
separtion of digits
performation of anal and choanal membrane
establism connection between uterus and vagina
immune sytem

16

what happens if Sry is deleted on the Y chromsomes

phenotypically female with XY karyotypes

17

what happens if SRY is translocated to the X chromsome

phenotypically male with XX karyotype

18

what is the most common cause of female pseudohermaphorditis

congential adrenal hyperplasia

19

what causes CAH

defect in 21-hydroxylase

20

failure to develop male genital results from waht

defect in testes devleopment
problem in adrogen biosyntehsis
defecy in adrogen receptor production or signalling by the target cells

21

abnoramlities in epigenetic proramming of stem cells generate what

pool of incompletely diffentiated cells

22

what is unique about incompletely differentiaed cells

retain some embryonal potental and can grown into a benign tumor