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Neo Board Review > Genetics > Flashcards

Genetics Flashcards

1
Q

What is malformation?

A

something went wrong from the beginning.. morphological defect during development process

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2
Q

What is disruption?

A

Disruption of normal developmental process.. like shortened limbs

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3
Q

What is deformation?

A

Results from mechanical issue, eg club feet

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4
Q

Most common cardiac anomaly with 22q11?

A

Conotruncal defects (VSD is MOST common of these)

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5
Q

Most common genetic defect in Noonan syndrome?

A

PTPN11 (50%)

Autosomal dominant

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6
Q

Most common CHD in Noonan syndrome?

A

Pulmonary stenosis, hypertrophic cardomyopathy

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7
Q

What does a karyotype test for?

A

Numerical abnormalities.. Also known as chromosomal analysis. Looks at larger abnormalities ie trisomies, translocations

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8
Q

What does a microarray look at?

A

Microdeletions and duplications

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9
Q

Which sources will accurately give us neonatal genetic testing? (blood etc)

A

Baby’s blood, amnio (baby’s skin cells) and cord blood.

CVS can have mixed cells.

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10
Q

Most common major malformation?

A

Neural tube defects

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11
Q

Which chromosomes can be involved in Robertsonian translocation?

A

Chromosome 13, 14, 15, 21 and 22

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12
Q

Most common single gene disorder in Caucasians?

A

Cystic fibrosis (autosomal recessive)

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13
Q

Clinical features of Trisomy 13

A 
Patau syndrome
Extra chromosome maternal origin
Midline abnormalities
Cutis aplasia
Hyperconvex fingernails
Cleft lip, palate, small eyes
Holoprosencephaly
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14
Q

Clinical features of Trisomy 18

A

Edward syndrome
Clenched hands, rocker bottom feet
Small mouth, micrognathia
IUGR, short sternum

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15
Q

Clinical features of Trisomy 21

A 
Endocardial cushion defect
Transverse palmar crease
Upslanting palpebral fissures
Flat nasal bridge
Brushfield spots (speckled iris)
Epicanthal folds
Large tongue
Short neck
Hypotonia
TMD
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16
Q

Postnatal eval for trisomy 21

A 
Echo
Red reflex (may have cataract)
Swallow study for feeding issues
CBC for TMD
TFTs
Car seat test
Hearing
17
Q

Features of cri du chat

A 
5p deletion (paternal origin)
Hypertelorism, downward slanting palpebral fissures
Cat like cry, mental deficiency, microcephaly
FTT
18
Q

Features of Angelman syndrome and mode of inheritance

A

Microdeletion of maternal origin (maternal imprinting OR paternal uniparental disomy) of 15q11-13
Inappropriate bursts of laughter, blond hair, light colored eyes
Ataxia, jerky movements
Puppet like gait
High amplitude spikes on EEG

19
Q

Most common chromosomal deletion in humans?

A

22q11.2 syndrome/DiGeorge syndrome/velocardiofacial syndrome

20
Q

Features of DiGeorge syndrome

A 
Defect in 4th brachial arch
Aortic arch abnormalities
Hypoplastic to aplastic thymus
Cleft lip/palate
Hypocalcemia
Deficient cellular immunity, developmental delay
Poor feeding
Butterfly vertebrae
21
Q

Features of Prader-Willi and mode of inheritance

A

Microdeletion of 15q11-13, paternal origin (paternal imprinting OR maternal uniparental disomy)
Small hands, feet
Hypotonia
Undescended testes
FTT initially, then obesity because of increased appetite
Breech delivery
Almond shaped palpebral fissures, thin upper lip

22
Q

Management of Prader Willi

A

Avoid G-tube for feeding issues
HCG may treat cryptorchidism
Growth hormone in older kids

23
Q

Features of Williams syndrome

A 
Deletion of 7q11.23
Supravalvular subaortic stenosis > PPS
Hypoplastic nails
Prominent lips
Hoarse voice
Stellate iris pattern
24
Q

Features of Beckwith-Wiedemann

A 
Autosomal dominant
Polyhydramnios
Macroglossia, linear earlobe fissures
Macrosomia, organ hyperplasia
Intraabdominal malignancies, hypoglycemia
Needs tumor surveillance screening
25
Q

Features of Holt Oram

A

Autosomal dominant
ASD (most common cardiac defect)
Upper limb defects
Absent or abnormal thumbs

26
Q

Features of Marfan syndrome

A

Abnormal fibrillin gene
Dilated aorta
Arachnodactly, hyperextensibility, scoliosis
Upward lens sublaxation

27
Q

Features of Noonan syndrome

A 
Dysplastic pulmonary valve
Pectus excavatum
Webbed neck
Cryptorchidism
Abnormalities in coag pathway

DDx: Turner, Fetal alcohol syndrome, fetal hydantoin

28
Q

Fanconi anemia

A

Autosomal recessive, increased chromosomal breaks in lymphocytes and amniotic fluid cells

  • Hyperpigmentation
  • Radial and thumb hypoplasia, short stature
  • Pancytopenia
  • Increased risk of AML
29
Q

Most common inherited cause of mental deficiency?

A

Fragile X

30
Q

Mobius sequence

A

Majority sporadic
Expressionless face
Micrognathia
Talipes equinovarus

31
Q

Poland sequence

A

Proximal subclavian artery disruption

Hypoplasia or absence of unilateral pectoralis major

32
Q

Which is not a part of mature messenger RNA?

A

Introns

They are part of the initial primary mRNA, but are spliced out when mature RNA is made

33
Q

What are exons?

A

They are the DNA sequence that is transcribed, retained and is the final product

34
Q

Role of poly-A tail

A

Aka polyadenylation sequence
Made of 100-200 adenine nucleotides
Role is to stabilize the mRNA
Attaches to the 3 end of primary and mature mRNA

35
Q

What is the North, West and Southern blot analyses?

A

Northern blot: Digested RNA with DNA probe
Southern blot: Digested DNA with DNA probe
Western blot: Proteins separated and antibody probe used to identify protein of interest

36
Q

Most common disorder of skeletal development in neonates?

A

Osteogenesis imperfecta

37
Q

Robertsonian translocation in Down’s is most commonly with which chromosomes?

A

13, 14 and 15

38
Q

Most common inherited cause of intellectual disability?

A

Fragile X

39
Q

What is a promoter?

A

It is on the 5’ end region

RNA polymerase and transcription factors bind to initiate transcription

Neo Board Review (16 decks)

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