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FOM Final Knowledge Exam > Genetics > Flashcards

Genetics Flashcards

1
Q

What is the clinical presentation of Prader-Wili syndrome?

A

Hyperphagia, obesity, small hands and feet, hypogonadism

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2
Q

What is the genetic cause of Prader-Willi syndrome?

A

4Mb deletion on chromosome 15q from PAPA

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3
Q

What is the clinical presentation of Angelman syndrome?

A

spontaneous, uncontrolled laughter, ataxia, and severe intellectual disability?

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4
Q

What is the genetic cause of Angelman syndrome?

A

a 4Mb deletion on chromosome 15q from MAMA

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5
Q

What is uniparental disomy?

A

two copies of a chromosome inherited from one parent

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6
Q

What is the clinical presentation of Beckwith-Wiedemann syndrome?

A

Large size for gestational age, large tongue, increased incidence of wilms tumor

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7
Q

What is the genetic cause of Beckwith-Wiedemann syndrome?

A

Imprinting on chromsome 11p; contains IGF2 gene, with 2 copies from father (normally father provides one copy; none from mother)

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8
Q

What is the clinical presentation and genetic cause of Silver-Russell syndrome

A

Growth retardation and short stature; deficient IGF2

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9
Q

What are a major pro and con for a conventional gene karyotype?

A

PRO: Genome-wide; numerical & structural
CON: 5-10Mb resolution

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10
Q

What are clinical presentations of Edward’s syndrome?

A

rocker-bottom feet, severe CNS impairment, horshoe kidneys, low and rotated ears

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11
Q

What is the genetic cause of Edward’s syndrome?

A

Trisomy 18

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12
Q

What are clinical presentations of Patau syndrome?

A

polydactyly, omphalocele, possibly holoprosencephaly or cleft palate

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13
Q

What is the genetic cause of Patau syndrome?

A

trisomy 13

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14
Q

What are clinical presentations of Cri-du-chat syndrome?

A

cry sounds like a cat, facial anomalies, severely low IQ (around 30)

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15
Q

What is the genetic cause of Cri-du-chat syndrome?

A

deletion in chromsome 5p

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16
Q

What are a major pro and con for FISH?

A

PRO: Resolution better than karyotype (smaller deletions & duplications detectable)
PRO: can be done on interphase chromosomes
CON: Limited to regions by tagged probes (NOT genome wide)

17
Q

What are a major pro and con of Comparative Genomic Hybridization?

A

PRO: Good at detecting deletions and duplications
CON: Done with metaphase chromosomes, resulotion not excellent

18
Q

What are major pros and cons of Cytogenetic Microarrays?

A
19
Q

How much DNA is shared by dizygotic twins?

A

50%

20
Q

A heritability score close to 1 indicated what?

A

Mostly genetically influenced

21
Q

How is heritability calculated?

A
22
Q

Understand the difference between fetal genetic testing

A
23
Q

What is an example of an indirect genetic test?

A

linked marker polymorphism; not exact, but can traces patterns of inheritance through family members

24
Q

Understand the differences between types of genetic tests

A
25
Q

Define incomplete penetrance:

A

Some individuals with a disease-predisposing genotype do NOT develop disease phenotype

26
Q

Which disease characterized by CAG repeats as well as age-dependent penetrance is notable for a progerssive loss of motor control (chorea)?

A

Huntington disease

27
Q

What is the major difference between incomplete penetrance and variable expression?

A

IP: binary; phenotype is presence or absent

VE: variability in severity of a disease or trait

28
Q

What type of genetic disease are Hemophilia A and Hemophilia B characterized as?

A

X-linked recessive

29
Q

What clotting factor deficiency is associated with Hemophilia A?

A

Factor VIII deficiency

30
Q

What clotting factor deficiency is associated with Hemophilia B?

A

Factor IX deficiency

31
Q

Proximal limb wasting with pseudohypertrophy presenting in distal limbs may indicate what X-linked recessive disease?

A

Duchenne muscular dystrophy

32
Q

Duchenne muscular dystrophy is typically caused by what types of mutations?

A

Frameshift (dystrophin is absent)

33
Q

Becker muscular dystrophy is typically caused by what types of mutations?

A

In-frame (dystrophin is present but abnormal)

FOM Final Knowledge Exam (6 decks)

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