Multiple Choice Flashcards
(41 cards)
Which correlation is false?
• Cystic fibrosis - chromosomal duplication
• Edwards syndrome - trisomy 18
• Huntington’s disease - CAG repeats
• Angelman syndrome - Defect imprinting
• No answer
• Cystic fibrosis - chromosomal duplication
A woman comes for a preconception genetic consultation. Her husband’s father and his nephew (?) are affected by hemophilia (X Linked recessive). What is the chance if the couple having a child affected by the disease?
• Zero
• 100% if male, 0% is female
• Equals to the prevalence of the pathological allele in the general population
• 50% if male
• Need to know that mutation etiology of the father
• Zero
What are microsatallite analysis NOT used for?
• Zygosity of twins
• Mother fetus DNA differentiation (rule out contamination)
• Paternity
• Direct ? Analysis ?
• Indirect ? Anaylsis ?
• Direct ? Analysis ?
Which factor determine aCGH resolution?
• Resolution of microscope
• Depth of ?
• Type of tissue / cells
• Number and size of probes
• All the answers are correct
• Number and size of probes
What can be a faster/simpler method of checking for the most common aneuploidy conditions than chromosomal karyotyping?
• Sanger
• Methylation test
• Quantitative PCR
• Allele specific PCR
• NGS
• Quantitative PCR
Two brothers of healthy parents are affected by the same autosomal dominant condition with full penetrance. What could be the reason?
• Uniparental isodisomy
• De novo
• Germline mosaiscm in parent
• Germline mosaiscm in the brothers
• Germline mosaiscm in parent
What is increased by inbreeding?
• Autosomal dominant conditions
• Autosomal recessive conditions
• X linked recessive
• X linked dominant
• Mitochondrial
• Autosomal recessive conditions
What can be caused by uniparental disomy?
• Autosomal recessive pathology
• Autosomal Dominant
• Autosomal recessive pathology
A couple comes in with a child affected by an autosomal recessive pathology where the mother is not a carrier of the pathological allele, what could be the underlying cause?
• Uniparental disomy of the father
• De novo
• Uniparental disomy of the father
A balanced reciprocal translocation in a parent can cause in a child:
• A ring chromosome
• Partial trisomy and monosomy
• Balanced rearrangement
• Partial trisomy and monosomy
What can NOT be analyzed using karyotyping?
• Trisomies
• Triploidies
• Translocation mosaicism <20%
• Unbalanced translocation
• Microdeletions/ duplication 3-5 Mb
• Microdeletions/ duplication 3-5 Mb
What does NOT affect hardy weinberg equilibrium?
• Genetic derivation
• Panmassia ? (Panmixia)
• Consanguinity
• Founder effect
• Bottleneck
• Panmassia ? (Panmixia)
A couple has a child with mental retardation, what is the probability that they would have another child with this condition?
• 1%
• 25%
• No way to know
• 50%
• No way to know
A couple both heterozygous and affected by autosomal dominant condition where the homozygous genotype is incompatible with life- what is the probability that they will have an affected child?
• 25%
• 50%
• 75%
• ⅔
• ⅓
• ⅔
The grandson never inherits sex chromosomes from which grandparents?
a. Maternal grandfather
b. Maternal grandmother
c. Paternal grandfather
d. Paternal grandmother
e. He inherits sex chromosomes from all grandparents equally
d. Paternal grandmother
The disease with recessive shows which patterns?
a. 75% pathogenicity in both allele
b. 50% pathogenicity with both alleles
c. 25% pathogenicity with both alleles
d. All of the answer
e. None of the answer
c. 25% pathogenicity with both alleles
Parents gave birth to 2 children with spinal muscular atrophy (SMA). When they
give birth to the next child, what is the percentage that the new child is also
affected?
a. 100%
b. 75%
c. 50%
d. 25%
e. 0%
d. 25%
What is correct regarding the severity of disease caused by the deletion?
a. The severity of the disease purly rely on the size of the deletion
b. The severity of the disease rely on both the size of the deletion and the location of the deletion
b. The severity of the disease rely on both the size of the deletion and the location of the deletion
Which is false regarding SMA
a. It is autosomal recessive
b. It is caused by a wide variety of possible mutations
c. SMN2 is involved in the phenotype
b. It is caused by a wide variety of possible mutations
Isochrome Xq
a. The inactivated X chromosome is random
b. The inactivated X is the normal one
c. the inactivated X is the abnormal one
c. the inactivated X is the abnormal one
Uniparental disomy due to trisomy rescue
a. Never manifests itself
b. Can be a heterodysomy
c. Is always a heterodisomy
d. No answer
b. Can be a heterodysomy
69, XXY is a:
a. Triploidy
b. Trisomy
c. Tetraploidy
a. Triploidy
A woman has karyotype 45 XX der (14,21) (q10,q10)
a. She is healthy
b. She is ill because sh has one less chromosome and carrier of a chromosomal rearrangement
c. She is healthy and carrier of a Robertsonian translocation
c. She is healthy and carrier of a Robertsonian translocation
Congenital means:
a. Present at birth
b. Hereditary
c. Present at birth and hereditary
d. None
a. Present at birth
