Important Terms

chromosome mutation

metacentric chromosome

submetacentric chromosome

acrocentric chromosome

telocentric chromosome

chromosome rearrangement

chromosome duplication

tandem duplication

displaced duplication

reverse duplication

segmental duplication

chromosome deletion

pseudodominance

haploinsufficient gene

chromosome inversion

paracentric inversion

pericentric inversion

position effect

dicentric chromatid

acentric chromatid

dicentric bridge

translocation

nonreciprocal translocation

reciprocal translocation

Robertsonian translocation

alternate segregation

adjacent-1 segregation

adjacent-2 segregation

fragile site

fragile-X syndrome

copy-number variation (CNV)

aneuploidy

polyploidy

nullisomy

monosomy

trisomy

tetrasomy

Down syndrome (trisomy 21)

primary Down syndrome

familial Down syndrome

translocation carrier

Edward syndrome (trisomy 18)

Patau syndrome (trisomy 13)

trisomy 8

uniparental disomy

mosaicism

gynandromorph

autopolyploidy

allopolyploidy

unbalanced gametes

amphidiploidy