Term
prevelance of chromosomal abnormalities |
|
Definition
|
|
Term
prevelance of single gene abnormalities |
|
Definition
2% of live births 5000 types; most are rare |
|
|
Term
prevelance of multifactorial abnormalities |
|
Definition
|
|
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
|
|
Term
|
Definition
anomaly produced by aberrant mechanical force |
|
|
Term
|
Definition
renal ageneis (malformation) causes flat face + pulmonary hypoplasia (deformations) |
|
|
Term
|
Definition
congenital abnormality arising due to destruction of normal tissue |
|
|
Term
|
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
|
Definition
1st full 7 weeks after fertilization |
|
|
Term
|
Definition
rest of pregnancy 8 - 38 weeks post-fertilization |
|
|
Term
|
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
|
|