Congenital anomalies

Question 1

if teratogen is introduced within first two weeks of blastocyst what happens

Answer 1

death

Question 2

what is most sensitive time for teratogan affect

Answer 2

organogenesis

Question 3

what is especially prone to congenital anomolies

Answer 3

ears

Question 4

if you see malformed ear what will you look for

Answer 4

major congenital anomalies

Question 5

what are three grouping of teratogans

Answer 5

infectious agents
physical agents
chemical agents

Question 6

what is multifactoral inheritance

Answer 6

combination of genetic & environmental factors

Question 7

what is deormation

Answer 7

alteration of portion of body due to mechanical force

Question 8

how is club feet deformation

Answer 8

compression fo amniotic cavity forms club feet

Question 9

are teratogens responsible for most congenital anomalies

Answer 9

no

Question 10

are polygenetic effects involved in multifactorial inheritance

Answer 10

yes

Question 11

why are minor congenital anomalies important?

Answer 11

they can be associated with major ones

Question 12

What is the leading cause of infant mortality

Answer 12

congenital anomalies

Question 13

What is the difference b/w syndrome & association?

Answer 13

syndrome is a group of anomalies that has known cause (like fetal alcochol syndrome)
association anomalies together but the cause is unknown

Question 14

What are the 4 families of congenital anomalies?

Answer 14

1. Chromosomal aberrations- changes in
   chromosomal numbers/ groupings. Ex- trisomy 18
2. Mutant genes- microdeletions. Ex-Prader Willi
3. Environmental agents. Ex- Teratogens
4. Multifactorial inheritance- combination of genetic (polygenetic) and environmental factors (teratogens) that runs in families

Question 15

what is the only monosomy anomaly compatible with life?

Answer 15

45X (Turner Syndrome)

Question 16

What are most chromosomal (numerical) anomalies due to?

Answer 16

meiotic nondisjunction

Question 17

What is trisomy 21?

Answer 17

down syndrome - extra chromosome 21

Question 18

What is tirsomy 18?

Answer 18

Edwards syndrome - extra chromosome 18

Question 19

What is trisomy 13?

Answer 19

Patau syndrome - extra chromosome 13

Question 20

what is klinefelter syndrome?

Answer 20

47XXY or 48XXXY

often mental retardation

Question 21

What is turner syndrome?

Answer 21

45, XO

only monosomy compatible with life

Question 22

Edwards, patau, klinefelter, etc are all examples of what?

Answer 22

numerical chromosomal aberrations

Question 23

Angelman syndrome has chromosome microdeletion, how is it inherited?

Answer 23

maternal chromosome

Question 24

prader-willi syndrome has chromosome microdeletion, how is it inherited?

Answer 24

paternal chromosome

Question 25

Cri-du-chat, prader-willi, and angelman are all examples of what?

Answer 25

structural chromosomal aberrations

Question 26

teratogen is an example of a _____ agent

Answer 26

envrionmental

Question 27

teratogen can only cause affect after certain what?

Answer 27

threshold level of exposure has been reached

Question 28

when is most important to not be exposed to teratogens?

Answer 28

first trimester, especially during weeks 2-8 organgenesis!

Question 29

What are the 4 congenital anomalies affects?

Answer 29

1. malformations
2. disruptions
3. deformation
4. dysplasia

Question 30

what is a malformation?

Answer 30

complete or partial absence of a structure or major alteration of its normal form

Question 31

what causes malformations?

Answer 31

enviornmental & genetic factors

Question 32

What is a disruption?

Answer 32

morphological alteration of already formed structures

Question 33

what causes disruption?

Answer 33

destructive process

Question 34

what is a deformation

Answer 34

alteration of portion of body, usually involving musculoskeletal

Question 35

what causes deformation

Answer 35

mechanical force
(like club feet)

Question 36

what is dysplasia?

Answer 36

abnormal organization of cells into tissues resulting in altered structures