Flashcards in final chp 16 congenital bullshit Deck (88)
the three causes of congenital malformations?
-genetic or chromosomal factors
-multifactorial or combination of 1 and 2
what is a teratogen?
any agent that can produce a congenital malformation
what is teratology?
the study of abnormal development
what is the definition of a sign?
objective evidence of disease
what is the definition of symptom?
subjective evidence of a disease
what is the definition of syndrome?
set of symptoms and signs which occur together
what is etiology?
study of the cause of disease
when is the critical period for the nervous system?
when is the critical period for the cardiac system?
when is the critical period for the ears?
4th to 8th week
when is the critical period for the eyes?
4th to 8th week
when is the critical period for the limbs?
4th to 7th week
what does nondisjunction mean in relation to chromosomal factors?
-chromosomal disorders result from numerical abnormalities
-occurs during to cell division
what is a normal karotype?
46,XY or 46XX
what is an abnormal karotype?
- 47(21)XY or 47 (21)XX
what does trisomy of autosomes mean?
when there are three chromosomes present instead of the usual pair
what is trisomy 21 referred to as?
what is the karotype of trisomy 21?
47 (21) XX or XY
what is the rate of prevalence of trisomy 21?
what are the physical characteristics of trisomy 21?
-ulnar loops on all fingers
-flat facial profile
what are the cognitive characteristics of trisomy 21?
-intellectual disability (mental retardation)
-poor moro reflex
what are the internal physical characteristics of trisomy 21?
what is the karotype of trisomy 18
47 (18) XX or XY
what is trisomy 18 also known as?
what are the characteristics of trisomy 18?
-low birth weight
-failure to thrive
-severe intellectual disability
-flexion deformation of fingers
-rocker bottom feet
what are the characteristics of trisomy X?
-normal to low IQ
-cardiac, skin and hair, facial are normal
what is the other name for trisomy X?
triple X or super female syndrome
what is the occurrence of trisomy X?
what is the karotype or trisomy Y?
47, XXY male