Shared Flashcard Set

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GER
GER flashcards
19
Biology
Graduate
05/27/2008

Additional Biology Flashcards

 


 

Cards

Term
prevelance of chromosomal abnormalities
Definition
1 in 250 live births
Term
prevelance of single gene abnormalities
Definition

2% of live births

 

5000 types; most are rare  

Term
prevelance of multifactorial abnormalities
Definition
2.5% of live births
Term
prevelance of major congenital abnormalities
Definition

2-3% of newborns

 

5% by 1 year 

Term

% of congenital abnormalities caused by:

 

multiple factors

Mendelian factors

maternal factors

mechanical deformation 

Definition

65%

 

25%

 

7%

 

1-2% 

Term
deformation
Definition
anomaly produced by aberrant mechanical force
Term
Potter sequence
Definition
renal ageneis (malformation) causes flat face + pulmonary hypoplasia (deformations)
Term
disruption
Definition
congenital abnormality arising due to destruction of normal tissue
Term
malformation
Definition

abnormality caused by failed or incomplete embryonic process(es)

 

ie; an interruption of normal development  

Term

NF2

 

full name

 

cause

 

outcome 

Definition

neurofibromatosis type II

 

 loss of 2 MERLIN alleles (inherited +spontaneous)

 

-bilateral schwannomas

-multiple meningiomas 

 

Term
embryonic period
Definition
1st full 7 weeks after fertilization
Term
fetal period
Definition

rest of pregnancy

 

8 - 38 weeks post-fertilization 

Term
teratogen
Definition
agent that causes malformation(s)
Term

requirement for:

 

generalized embryonic toxicity

 

tissue specific effect 

Definition

high dose

 

critical time of action 

Term

outcome of teratogen exposure

 

in weeks 1-3 

Definition

-miscarriage

-fetal death 

Term

outcome of teratogen exposure

 

in weeks 3-8 

Definition

 

-major, tissue-specific malformations

-growth retardation

-impaired IQ 

-fetal death

Term

outcome of teratogen exposure

 

in weeks 8-38 

Definition

-growth retardation

-imparied IQ

-stillbirth 

Term
week during which risk of birth defect induction is highest
Definition
week 5
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