introduction Flashcards
exam 1
outward appearance of an individual
phenotype
genetic make up of an individual
genotype
particular copy of a gene on a chromosome
allele
present at birth, usually in all cells
constitutional
present at birth, often before birth
congenital
passed on from a parent
inherited
genetic alteration causing disease
pathogenic
term used in clinical genetics
congenital
term used more in cancer
constitutional
occurring in the body, but not in the gametes
somatic
occurring in the testis or ovary, could be passed on
germline
parent of a child with a recessive condition
obligate carrier
two or more cell lines in one person
mosaic
mix of cells from two individuals
chimera
bone marro transplant an example of _______
chimera
change happens after birth, usually associated with cancer
acquired
essential for counseling, establishment of mode of inheritance
pedigree
your generation
cousin
consanguinity in ___ ____ or closer
second cousin
increases offspring chances of having an autosomal recessive disorder
consanguinity