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1. Disciplines 2 > Peds Genetics > Flashcards

Peds Genetics Flashcards

1
Q

What are the 5 causes of mutations?

A
  1. Multi-factorial
  2. Spontaneous
  3. Genetic
  4. Environmental
  5. Epigenetics
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2
Q

What does prenatal screening consist of?

A

Maternal serum (2nd trimester)

Fetal U/S

Amniocentesis, chorionic villus sampling

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3
Q

What is the purpose of prenatal screening?

A

To detect:
NTDs
Chromosomal trisomies
Cardiac defects

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4
Q

What causes polyhydraminos?

A

Duodenal atresia*
Gastroschsis
Omphalocele*

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5
Q

What causes oligohydraminos?

A

Renal problems (s/a Horseshoe kidney)

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6
Q

What does the maternal serum screening consist of?

A

AFP
HCG
Unconjugated estriol
Inhibin A

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7
Q

What do increased levels of AFP indicate?

A

Anencephaly*
Spina bifida*
Abd wall defects

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8
Q

Decreased levels of AFP can indicate…

A

Trisomy 21 or 18

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9
Q

What are 2 examples of a neural tube defect?

A

Spinal bifida occulta

Myelomeningocele

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10
Q

What can a fetal U/S detect?

A

Nuchal thickness

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11
Q

What are characteristics of Trisomy 21?

A 
Hypotonia 
Down's facies 
Simian crease 
Hypoplasia of 5th digit 
Sandal toe
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12
Q

What cardiac defect can you see w/ Trisomy 21?

A

AV canal (endocardial cushion defect)

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13
Q

What GI effects are seen in Trisomy 21?

A

Duodenal atresia/stenosis*

Hirshsprung disease

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14
Q

What endocrine disorder is seen w/ Trisomy 21?

A

Hypothyroidism

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15
Q

What MSK problem is seen w/ Trisomy 21?

A

Atlantoaxial instability

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16
Q

What ocular defects are seen w/ Trisomy 21?

A

Cataracts, glaucoma

17
Q

What are characteristics of Trisomy 18 (Edwards syndrome)?

A

Clenched hand w/ overlapping fingers**

Prominent occiput

Rocker-bottom feet**

Micrognathia

Umbilical hernia

18
Q

What are infant characteristics of Turners syndrome?

A

Webbed neck
Low hairline
Lymphedema*
Co-arctation of the aorta

19
Q

When do newborn screenings occur?

A

1st screen: At hospital, after 24hrs of life

2nd screen: 5-14 days

20
Q

What is phenylketonuria (PKU)?

A

Amino acid d/o, enzyme defect –> increased phenylalanine

21
Q

What are characteristics of PKU?

A 
Blond hair, blue eyes
MR, autism 
Seizures
Mousy oder 
Fam hx of develop. delay
22
Q

What are characteristics of congenital hypothyroidism in a newborn?

A 
Larger posterior fontanelle
Prolonged jaundice
Macroglossia
Hoarse cry 
Umbilical hernia 
Constipation
23
Q

What are characteristics of congenital hypothyroidism in childhood?

A

MR, poor growth

24
Q

What is congenital adrenal hyperplasia (CAH)?

A

Increased 17-OH hydroxylase

25
Q

What are characteristics of CAH-21 hydroxylase deficiency in males?

A

Salt wasting syndrome:

  • blockage of aldosterone & cortisol
  • hyponatremia, hypokalemia, hypoglycemia, metabolic acidosis
  • vomiting, shock, dehydration
26
Q

What are characteristics of CAH-21 hydroxylase deficiency in females?

A

Ambiguous genitalia
virilization
Salt wasting

27
Q

What are characteristics of prader-willi syndrome?

A 
Inherited from father 
Deletion of 15q11-q13
Severe hypotonia, FTT
Obesity, hyperphagia 
Small hands/feet
Hypogonadism
MR
28
Q

What are characteristics of Angelman syndrome?

A 
Deletion of chromosome 15q-q13
happy puppet - ataxia 
Fair hair 
Seizures 
Uncontrollable laughter 
MR
29
Q

Describe: Branch chained amino acid defect (Leucine, isoleucine, valine)

A

Maple syrup urine disease
Autosomal recessive
Deficiency of decarboxylase
CNS effects

30
Q

How do you dx branch chained amino acid defect?

A

Measure LIV levels

31
Q

How do you treat branch chained amino acid defect?

A

Enzyme replacement

32
Q

What is Tay Sachs disease?

A

a deficiency of hexoaminidase A

33
Q

What are characteristics of Tay-Sachs in infancy?

A

Hypotonia
Blind
Clumsy, awkward
Seizures

MC in Ashkenazi Jews and French Canadians

34
Q

What are characteristics of osteogenesis imperfecta?

A

Dominant gene defect
Affects collagen
MC = Type 1 (blue sclerae, brittle bones, deafness)
Can be lethal (Type 2)

1. Disciplines 2 (11 decks)

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