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Flashcards in final chp 16 congenital bullshit Deck (88)
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1

the three causes of congenital malformations?

-genetic or chromosomal factors
-environmental factors
-multifactorial or combination of 1 and 2

2

what is a teratogen?

any agent that can produce a congenital malformation

3

what is teratology?

the study of abnormal development

4

what is the definition of a sign?

objective evidence of disease

5

what is the definition of symptom?

subjective evidence of a disease

6

what is the definition of syndrome?

set of symptoms and signs which occur together

7

what is etiology?

study of the cause of disease

8

when is the critical period for the nervous system?

3rd-7th week

9

when is the critical period for the cardiac system?

4th-6th week

10

when is the critical period for the ears?

4th to 8th week

11

when is the critical period for the eyes?

4th to 8th week

12

when is the critical period for the limbs?

4th to 7th week

13

what does nondisjunction mean in relation to chromosomal factors?

-chromosomal disorders result from numerical abnormalities
-occurs during to cell division

14

what is a normal karotype?

46,XY or 46XX

15

what is an abnormal karotype?

trisomy
- 47(21)XY or 47 (21)XX

16

what does trisomy of autosomes mean?

when there are three chromosomes present instead of the usual pair

17

what is trisomy 21 referred to as?

downs syndrome

18

what is the karotype of trisomy 21?

47 (21) XX or XY

19

what is the rate of prevalence of trisomy 21?

1:800

20

what are the physical characteristics of trisomy 21?

-small stature
-hyperflexed joints
-hypotonia
-microcephaly
-simian crease
-ulnar loops on all fingers
-small genitalia
-flat facial profile
-dry skin

21

what are the cognitive characteristics of trisomy 21?

-intellectual disability (mental retardation)
-poor moro reflex

22

what are the internal physical characteristics of trisomy 21?

-palpebral fissure
-inner epicanthus
-ASD,VSD

23

what is the karotype of trisomy 18

47 (18) XX or XY

24

what is trisomy 18 also known as?

edwards syndrome

25

what are the characteristics of trisomy 18?

-low birth weight
-failure to thrive
-severe intellectual disability
-flexion deformation of fingers
-overlapping fingers
-rocker bottom feet
-VSD,ASD,PDA

26

what are the characteristics of trisomy X?

-normal to low IQ
-cardiac, skin and hair, facial are normal
-scanty menses
-fertile

27

what is the other name for trisomy X?

triple X or super female syndrome

28

what is the occurrence of trisomy X?

1:700

29

what is the karotype or trisomy Y?

47, XXY male

30

what syndrome is associated with trisomy with Y?

klinefelter syndrome