exam 3 Flashcards
Karoytype
-chromosomes prepared from actively dividing cells
-halted in metaphase
-chromosome arranged according to size
chromosome reaaragnements
change in chromosome structure
aneuploidy
change in number of individual chromosomes
-extra missing chromosomes usually due to nondisjunction of homologs in meiosis I..
duplication
duplication of a chromosome segment
-effects
deletion
deletion of a chromosome segment
-effects-
inversion
chromosome segment inverted 180 degrees
-effects-
paracentric
inversion that does not include the centromere in the inverted region
pericentric
inversion that includes the centromere in the inverted region
translocation
movement of a chromosome segment to a nonhomologous chromosome or to another region of the same chromosome
-effects-
robertsonian
is a genetic abnormality
-special case of reciprocal results in a fusion
klinefelter syndrome
-XXY, or XXXY, or XXXXY, or XXYY; 1/1000 male births
turner syndrome
-XO; 1/3000 female births
nullisomy
loss of both members of a homologous pair, 2n-2
monosomy
loss of one member of homologous pair
-2n-1
trisomy
gain of one chromosome, resulting in three homologous chromosomes
-2n+1
tetrasomy
gain of two homologous chromosomes resulting in four homologous chromosomes
-2n+2
down syndrome (trisomy 21)
-primary down syndrome: 75% random nondisjunction in egg formation
-familial down syndrome: Robertsonian translocation between chromosomes 14 and 21
edward syndrome (trisomy 18)
1/8000 live births
Patau syndrome (trisomy 13)
1/15,000 live births
trisomy *
1/25,000-1/50,000 live births
polypoidy
addition of entire chromosome sets
-common in plants, rare in animals
uniparental disomy
occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent.
autopolyploidy
polyploidy in which extra chromosomes sets are derived from the same species
-often caused by failure of cytokinesis
allopolyploidy
polyploidy in which extra chromosome sets are derived from two or more species
-hybirdization between different species with different chromosome sets
gene
an inherited factor (encoded in the DNA) that helps determine a characteristic