MDSC 515 UPDATED EXAMS ALL QUESTIONS AND
ANSWERS SURE A+
✔✔balanced structural chromosome changes - ✔✔-no loss/gain of genetic material
-translocations
-inversions
-insertions
✔✔unbalanced structural chromosome changes - ✔✔-loss/gain of genetic material
-deletions
-duplications
✔✔paracentric vs pericentric inversion - ✔✔-para involves the centromere and peri
doesn't
-if the region inverted loops when the centromere is involved and there is recombination
then there will be loss or gain in the offspring
✔✔isodicentric chromosome - ✔✔-mirror image duplication involving the centromere
✔✔isochromosome - ✔✔-mirror image duplication not involving the centromere
✔✔ring chromosomes - ✔✔-when the chromosome is fractured and it tries to fix itself
-chromosome breaks in two places and the ends fuse together
, ✔✔chromosomal SNP microarray detection - ✔✔-genomic imbalances
-duplications and deletions (copy number loss)
-whole chromosomal aneuploidies
-triploidy (69 chromosomes)
-microdeletions and microduplications - CNV's and unbalanced rearrangements - loss of
heterozygosity - more related = more haplotypes the same
-mosaic imbalances >10% - when different cells in the body have different genotypes
-regions with loss of heterozygosity - uniparental isodisomy (when the offspring inherits
both pairs of chromosomes from one parent), degree of relatedness of parents
✔✔chromosomal microarray does not detect - ✔✔-small changes in the sequences of
genes (point mutations, SNVs, indels)
-balanced chromosomal rearrangements (balanced translocations, balanced inversion,
and balanced insertions)
-CNVs with regions not covered on the microarray
-triplet repeat expansion disorders
-low level mosaic imbalance
-methylation status
✔✔clinical contributions of chromosomal microarray - ✔✔-provide or refine a diagnosis
-guide prognosis, management and therapeutic interventions
-improve genetic counselling, inform reproductive planning
-enhance prenatal diagnosis
✔✔Next gen sequencing - ✔✔-can do whole genome, whole exam or targeted panel
-can use to detect CNVs - insertions and deletions
-can use to map translocation, insertion, or inversion breakpoints
✔✔structural abnormalities in cancer - ✔✔-88% of cancers
-deletions, amplifications. translocations, duplications, inversions
✔✔numerical abnormalities of cancer - ✔✔-90% of cancers
-aneuploidy, instability, ploidy changes
✔✔optical genome mapping - ✔✔-shows all structural variants in one test
-each DNA molecule gets a barcode and this is aligned to a reference sequence for
comparison
-barcodes are created by attaching a fluorophore to the DNA molecules
-can detect deletion, insertion, repeat expansion, duplication, inversion and
translocation
✔✔real time PCR: q-PCR - ✔✔
✔✔3 major events in acute inflammation - ✔✔-increased blood flow
ANSWERS SURE A+
✔✔balanced structural chromosome changes - ✔✔-no loss/gain of genetic material
-translocations
-inversions
-insertions
✔✔unbalanced structural chromosome changes - ✔✔-loss/gain of genetic material
-deletions
-duplications
✔✔paracentric vs pericentric inversion - ✔✔-para involves the centromere and peri
doesn't
-if the region inverted loops when the centromere is involved and there is recombination
then there will be loss or gain in the offspring
✔✔isodicentric chromosome - ✔✔-mirror image duplication involving the centromere
✔✔isochromosome - ✔✔-mirror image duplication not involving the centromere
✔✔ring chromosomes - ✔✔-when the chromosome is fractured and it tries to fix itself
-chromosome breaks in two places and the ends fuse together
, ✔✔chromosomal SNP microarray detection - ✔✔-genomic imbalances
-duplications and deletions (copy number loss)
-whole chromosomal aneuploidies
-triploidy (69 chromosomes)
-microdeletions and microduplications - CNV's and unbalanced rearrangements - loss of
heterozygosity - more related = more haplotypes the same
-mosaic imbalances >10% - when different cells in the body have different genotypes
-regions with loss of heterozygosity - uniparental isodisomy (when the offspring inherits
both pairs of chromosomes from one parent), degree of relatedness of parents
✔✔chromosomal microarray does not detect - ✔✔-small changes in the sequences of
genes (point mutations, SNVs, indels)
-balanced chromosomal rearrangements (balanced translocations, balanced inversion,
and balanced insertions)
-CNVs with regions not covered on the microarray
-triplet repeat expansion disorders
-low level mosaic imbalance
-methylation status
✔✔clinical contributions of chromosomal microarray - ✔✔-provide or refine a diagnosis
-guide prognosis, management and therapeutic interventions
-improve genetic counselling, inform reproductive planning
-enhance prenatal diagnosis
✔✔Next gen sequencing - ✔✔-can do whole genome, whole exam or targeted panel
-can use to detect CNVs - insertions and deletions
-can use to map translocation, insertion, or inversion breakpoints
✔✔structural abnormalities in cancer - ✔✔-88% of cancers
-deletions, amplifications. translocations, duplications, inversions
✔✔numerical abnormalities of cancer - ✔✔-90% of cancers
-aneuploidy, instability, ploidy changes
✔✔optical genome mapping - ✔✔-shows all structural variants in one test
-each DNA molecule gets a barcode and this is aligned to a reference sequence for
comparison
-barcodes are created by attaching a fluorophore to the DNA molecules
-can detect deletion, insertion, repeat expansion, duplication, inversion and
translocation
✔✔real time PCR: q-PCR - ✔✔
✔✔3 major events in acute inflammation - ✔✔-increased blood flow
