Shared Flashcard Set

Details

Introduction
MHG
20
Medical
Graduate
10/27/2011

Additional Medical Flashcards

 


 

Cards

Term
Infant mortality
Definition
1/3 of all infant mortality is related to genetic condition
Term
Birth defects
Definition
2-3% of all newborns have some type of birth defect
Term
Incidence of single gene disorders
Definition
1/500
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
Polymorphism
Definition
Any DNA change that occurs in >1% of the population
Term
Rare variant
Definition
Any DNA change that occurs in <1% of the population
Term
RB1 gene
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
Allelic heterogeneity
Definition
Different alleles (mutations) cause the same phenotype
ex. CFTR gene in CF
Term
Locus heterogeneity
Definition
Different mutations of different genes causes same disease
ex. Retinitis pigmentosa
Term
Phenocopy
Definition
An environmentally induced phenotype that is the same as genetically induced phenotype
ex. Digeorge syndrome and retinoic acid embryopathy
Term
Pleiotropy
Definition
Multiple phenotypic effects of a single gene
ex. Stickler syndrome
Term
Malformation
Definition
Localized abnormalities in organogenesis

Something completely missing

Major: 3% of births
Minor: 17% of full term births
Term
Dysplasia
Definition
Abnormal organization of fully developed cells
Term
Deformation
Definition
Extrinsic force that impairs normal development

ex. low amniotic fluid prevents normal development
Term
Disruption
Definition
Fully developed tissue is destroyed by extrinsic force

ex. amniotic banding
Term
Syndrome
Definition
Recognizable pattern caused by single etiology
Term
Association
Definition
Group of symptoms commonly found together with unknown etiology

ex. VACTERL
Term
Sequence
Definition
Series of congenital anomalies that leads to secondary structure changes

ex. Robin sequence
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