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16 Cards in this Set

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Cytogenetics
(karotyping)
*diagnostic method
the examination of chromosomes by light microscopy (chromosomal analysis)
Biochemical genetics
*diagnostic method
the detection of abnormally high or low levels of proteins & other substances
DNA analysis of chromosomes
(molecular genetics)
*diagnostic method
DNA sequences are identified in individual genes by chemical analysis (most advanced research)
A mutation
a permanent, transmissible change affecting (usually) a single gene
Autosomal
genetic defects in autosomes
Chromosomal aberrations
variations from the expected number & composition of chromosomes
Nondisjunction
failure of chromosomes to divide & then pair up correctly during mitosis or meiosis
Gene
a functional unit of heredity
Genotype
chromosomal makeup
phenotype
physical appearance & biochemical composition & function
aneuploidy
an abnormal number of chromosomes (more or less than the expected 46)
Trisomy
when 3 copies of chromosomes occur rather than two resulting in a total of 47
(Down syndrome)
Monosomy
chromosome total is 45 rather than 46
Congenital disorders
present at birth - not necesarily hereditary
Hereditary disorders
inherited from one or both parents.
Name 3 basic laboratory methods of genetic diagnosis
Karyotyping (ctyogenetics)
Biochemical genetics
DNA analysis (molecular )