CYTOGEN 2 Flashcards
recognized set of symptoms that characterize a given disorder
syndrome
is illness caused by
infectious disease, dietary, or environmental factors, not caused by inheritance of mutant genes.
disease
This type is caused by
changes or mutations that occur in the DNA sequence of one gene
Single-gene
single gene is also called
Mendelian or monogenic)
This type is caused by a
combination of environmental factors and mutations in multiple genes
Multifactorial
Multifactorial is also called
complex or polygenic
, distinct structures made up of DNA and protein,
are in the nucleus of each cell.
Chromosomes
Some types of major chromosomal abnormalities can be detected by ______________ examination.
microscopic
is a common disorder that occurs when a person has three copies of chromosome 21.
Down syndrome or trisomy 21
This relatively rare type of genetic disorder is caused by mutations
in the non-chromosomal DNA of mitochondria
Mitochondrial
are small round or
rod-like organelles involved in cellular respiration and found in the cytoplasm of
plant and animal cells
Mitochondria
occurs when genes are unable to work properly
Disease
inability to see color
Achromatopsia
reduction in adrenal gland function
Adrenal Hypoplasia Congenita
no melanin pigment in eyes, skin and hair
Albinism/Hypopigmentation
degenerative disease starting with memory loss
Alzheimer’s
poor or indistinct vision
Amyblopia
immunodeficiency disorder
Ataxia Telangiectasia
brain development disorder
Autism
Fatal, autosomal recessive neurodegenerative disorder
Batten Disease
progressive vision loss
Best’s Disease
physical disability in human development
Cerebral Palsy
formation of abnormal hemoglobin molecules
Cooley’s Anemia/Thalassemia
progressive disability due to multisystem failure
Cystic Fibrosis
autosomal recessive disorder of the renal tubules
Cystinosis
Impairment of cognitive ability, physical growth & facial appearance
Down Syndrome
disorder of the autonomic nervous system
Epidermolysis Bullosa
(deficiency of the enzyme glucocerebrosidase
Gaucher’s Disease