Term
|
Definition
| 1/3 of all infant mortality is related to genetic condition |
|
|
Term
|
Definition
| 2-3% of all newborns have some type of birth defect |
|
|
Term
| Incidence of single gene disorders |
|
Definition
|
|
Term
| Incidence of chromosome disorders |
|
Definition
0.7% of all live births
10-15% of children with MR
50% of spontaneous abortions that occur within first few weeks of pregnancy |
|
|
Term
| Incidence of multifactorial disorders |
|
Definition
| 20-40% of entire population |
|
|
Term
|
Definition
| Any DNA change that occurs in >1% of the population |
|
|
Term
|
Definition
| Any DNA change that occurs in <1% of the population |
|
|
Term
|
Definition
Tumor supressor
Loss of function mutation leads to retinoblastoma |
|
|
Term
| Clinical/Phenotypic heterogeneity |
|
Definition
Mutations in the same gene cause different diseases
ex. RET gene
Hirschprung and MEN2B |
|
|
Term
|
Definition
Different alleles (mutations) cause the same phenotype
ex. CFTR gene in CF |
|
|
Term
|
Definition
Different mutations of different genes causes same disease
ex. Retinitis pigmentosa |
|
|
Term
|
Definition
An environmentally induced phenotype that is the same as genetically induced phenotype
ex. Digeorge syndrome and retinoic acid embryopathy |
|
|
Term
|
Definition
Multiple phenotypic effects of a single gene
ex. Stickler syndrome |
|
|
Term
|
Definition
Localized abnormalities in organogenesis
Something completely missing
Major: 3% of births
Minor: 17% of full term births |
|
|
Term
|
Definition
| Abnormal organization of fully developed cells |
|
|
Term
|
Definition
Extrinsic force that impairs normal development
ex. low amniotic fluid prevents normal development |
|
|
Term
|
Definition
Fully developed tissue is destroyed by extrinsic force
ex. amniotic banding |
|
|
Term
|
Definition
| Recognizable pattern caused by single etiology |
|
|
Term
|
Definition
Group of symptoms commonly found together with unknown etiology
ex. VACTERL |
|
|
Term
|
Definition
Series of congenital anomalies that leads to secondary structure changes
ex. Robin sequence |
|
|
