Chapter 8 Flashcards
the variations in the number and structure of chromosomes
chromosome mutations
what are mutations that that alter the structure of the chromosome?
chromosome rearrangement
what are mutations that alter the number of chromosomes
aneuploidy
What are chromosome mutations that add complete sets of chromsomes
polyploidy
What is a mutation where part of the chromosome has been doubled
chromosome duplication
what is the duplication where the segment is next to the original or far away from the original respectively
tandem and displaced duplication
What is a duplication that is inverted
reverse duplication
what are sections of the genome that have duplications greater than 1000 bp
segmental duplications
what is the process where chromosomes misalign during crossing over
unequal crossing over
What is the rearrangement where a chromosome segment is lost
chromosome deletion
What is the phenomenon where a recessive allele is demonstrated because of the wild type allele being lost with deletion?
pseudodominance
What is the phenomenon where one copy is not enough to produce a wild-type phenotype?
haploinsufficient
What is the rearrangement where a chromosome segment is turned 180 degrees.
chromosome inversion
what are inversions that do not include and include the centromere respectively
paracentric and pericentric inversions
What is the phenomenon where the position alters the outcome
position effect
What is a chromatid with two centromeres and no centromeres respectively
dicentric and acentric chromatid
What is the structure where the dicentric chromatic is brought to the center in anaphase I
dicentric bridge
What is the mutation where genetic material is moved between nonhomologous chromosomes or within the same chromosome
translocation
What is the form of translocation where genetic material is moved without any reciprocal exchange and with exchange respectively
nonreciprocal and reciprocal translocation
What is a form of translocation where two acrocentric chromosomes are combined to form one metacentric chromosome and a small fragment
Robertsonian translocation
What is segregations where the normal chromosomes and the translocated chromosomes move in respective pairs to opposite poles.
Alternate segregation
What happens when a normal and translocated chromosome move together, but whose centromeres sharing chromosomes are seperated
adjacent-1 segregation
What Happens when the two normally homologous chromosomes before translocation go together (rare)
Adjacent-2 segregation
What are areas that develop constrictions or gaps when the cells are grown in culture and are prone to breakage
fragile sites
What syndrome sees a fragil site on the X-chromosome
fragile-X syndrome
What uses the number of copies to detect rearrangements?
copy-number variations
what are variations that include rearrangements and copy-number variations?
structural variants
what is the loss of both members of a homologous pair
nullisomy
What is the loss of a single chromosome
monosomy
What is the gain of a single chromosome
trisomy
What is the gain of two homologous chromosomes
tetrasomy
A duplication of a chromosome 21 that results in flat face, small nose, oval-shaped eyes, and intellectual disabilities
Down syndrome/trisomy 21
What is the form of down syndrome that impacts 92% of the afflicted with a full copy of chromosome 21 mainly in nondisjunction during egg formation
primary down syndrome
What form of down syndrome results in the combination of chromosome 21’s long arm with another chromosome (chromosome 14 short arm; centromere from 14) via Robertsonian translocation and can run in the family
familial down syndrome
What are carriers of the familial down syndrome that are normal despite lacking a chromosome
translocation carriers
What is the syndrome with an additional chromosome 18; that have a intellectual disability, low-set of ears, short neck, deformed feet, clenched fingers, hear problems, and other disabilities. Most die early
Edwards syndrome/trisomy 18
What is the syndrome with an additional chromosome 13 that results in a small head, sloping forehead, small eyes, a cleft lip and palate, extra fingers and toes, and numerous other problems; most die before 3
patau syndrome/trisomy 13
What is a rare condition that leads to disability in intelligence, low-set of malformed ears, contracted fingers and toes, and most are mosaics.
trisomy 8
what is the condition where both chromosomes are inherited from the same parent
uniparental disomy
regions of tissues with different chromosome constitutions
genetic mosaicism
what are sexual mosaics
gynandromorphs
What are polyploidy genomes that are produced by accidents of mitosis or meiosis that produce extra sets of chromosomes, all derived from a single species.
autopolyploidy
What are gametes with different numbers of chromosomes
unbalanced gametes
What are polyploidy genomes that are produced by hybridizing two species
allopolyploidy
what is a type of allopolyploid that consists of two combined diploid genomes
amphidiploid
