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Pediatrics > Genetics > Flashcards

Genetics Flashcards

1
Q

What are the different types of genetic variations?

A

Substitution
Deletion
Insertion

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2
Q

What are the 3 types of substitutiom?

A

Silent/Synonymous/Wobble
Missense
Nonsense

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3
Q

What causes frameshift mutations?

A

Due to insertion or deletions -> premature termination with loss of function or expressiob

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4
Q

What type of substition variation has substitution of 1 AA for another that mayaffect protein function or stability?

A

Missense

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5
Q

What type of substitution has loss of function or expression from the degradation of mRNA?

A

Nonsense

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6
Q

What is the principle that different genes are inherited separately?

A

Principle of independent assortment
Principle of segregation

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7
Q

What are the chances of a child acquiring a disease if the parent has the inherited disorder?

A

If autosomal dominant -> 50%

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8
Q

What are the reasons why parents are healthy but children have autosomal dominant disorders?

A

New mutation
Reduceed or incomplete penetrance
Variable expressivity
Somatic mutations

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9
Q

What are the diff autosomal dominant conditiobs?

A

Familial hypercholesterolemia
Marfan syndrome
Ehlers danlos syndrome
Neurofibromatosis type 1
Osteogenesis imperfecta
Achondropasia

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10
Q

What is the test used for clin evaluation of Marfan syndrome?

A

Steinberg sign
- (+) if thumb extends beyong the palm of the hand -> need to be eval for Marfan syndrome

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11
Q

What are drugs used to prevent enargement of the aorta & prevent rupture later on in Marfan syndrome?

A

Beta blockers & Losartan -> prevents aneurysms

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12
Q

What aer the defects in Familiarl hypercholesterolemia?

A

LDL-R gene on chromosome 19

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13
Q

What are other manifestations of Familial hypercholesterolemia?

A

xanthelasms = accumulation of lipids in eyelids of periorbital skin

Xanthomas = accumulation of lipid-laden macrophage in skin & tendons

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14
Q

What are tx for Familial hyprecholesterolemia?

A

Statins
Lifestyle changes
LPP apheresis

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15
Q

What is aka brittle bone disease that prevents the body from producing strong bones?

A

Osteogenesis imperfecta

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16
Q

What is the mutation in Osteogenesis imperfecta?

A

Lack of type 1 collagen

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17
Q

What are other features of osteosis imperfecta?

A

Hearing loss
Bluish sclerae -> thinness & transparency of collagen fibers of sclerae

Short stature
Loose joints

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18
Q

What are tx options for osteosis imperfecta?

A

Rehab/Occupation therapy
PT
Assistive devices
Putting metal rods through long bones
Oral & dental care
Medications = Vit D & C, Ca+, NSAIDs

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19
Q

What is aka as Von Recklinghausen diseaese that causes Cafe au lait spots?

A

Neurofibromatosis type 1

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20
Q

What is the defect in NFT 1?

A

Tumor suppressor gene NF-1 on chromsome 17

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21
Q

What are clin feature sof NFT 1?

A

Lisch nodules
Multiple neurofibromas
Cafe au lait spots
Optic pathway gliomas
Learning defects
Optic pathway gliomas
Bone defects
Short stature, seizures, malignancies

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22
Q

What is the tx of NFT 1?

A

Surgery
Radiation/chemotherapy

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23
Q

What are the chances of u acquiring an Autosomal recessive disease?

A

25% recurrence risk for parents w/ prev affected child

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24
Q

WHAT ARE THE diff autosomal recessive disorders?

A

CAH
MSUD
Phenylketonuria
GalactosemiA

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25
Q

WHAT GENe is defect in phenylketonuria?

A

Mutation in PAH gene in chromosome 12

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26
Q

What r the causes of Galactosemia?

A

Galactose-1 phosphate uridyltransferase
Galactokinase
Uridine diphosphate-galactose-4-epimerase

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27
Q

What are the clinical features of Galactosemia?

A

Jaundice
Hepatomegaluy
Vomiting
Hypoglycemia
Convulsions
Lethargy
Irritability
Poor weight gain
Feeding difficulties

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28
Q

What are the enzymes defect in CAH?

A

21-hydroxylae deficiency (ch 6)
11 beta hydroxylase def (chr 8)
3-beta hydroxysteroid dehydrogenase def (ch 1)
Congenital lipoid adrenal hyperplasia (ch 8)

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29
Q

What are the subcategories of CAH?

A

Salt wasting
Non -salt wasting/simple virilizing CAH

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30
Q

What rea the classical symptoms of phenylketonuria?

A

Light-haired
Fair-skinned
Severe Mental retardation
Impaired brain development

31
Q

What are the chances of affecting son and daughter of an x-linked recessive disorder?

A

50% chance of child having the disorder if they dont inherited the mutated X-linked gene

25% risk of having a carrier daughter

25% risk of having an affected son

32
Q

What is the hallmark of Hemophilia?

A

Hemarthrosis

33
Q

What is the mutation defect in Duchenne muscular dystrophy?

A

Dystrophin gene -> responsible for connecting muscle fibers to ECM

34
Q

what are the primary symptoms important in DMD?

A

Progressive proximal muscular weakness

35
Q

What is the postiive sign of DMD?

A

+ Gower’s disgn = child assumes hands & knees position then climbing to a stand by walking his hands up his shins, kness and thighs

36
Q

What drug can slow down loss of muscle strength in DMD?

A

Steroids

37
Q

What are the clin manfiestations of G6PDD?

A

Hemolytic anemia
Hemoglobinuria
Jaundice

38
Q

What are the diff non-mendelian inheritance?

A

Triplet repeat expansion disorders
Genomic impringting
Uniparental disomy
Mitochondrial disorders
Mutifactorial inhertiance

39
Q

What NM inheritance results from abnormal expansion of reptitive sequences characterized by unstable DNA?

A

Triple repeat expansion disorders

40
Q

What are exampels of triplet repeat expansion disorders?

A

Fragile X syndrome
Myotonic dystrophy
Huntington disease
Spinocerebrallar ataxias

41
Q

What NM inhertiance has gene silencing where 1 copy of gene is transcribed while other copy is silence?

A

Genomic imprinting
- genetic hcnage does not change DNA sequence

42
Q

What are examples of genomic imprinting?

A

Microdeletion on chromsome 15q11-13
- Prader willi syndrome = paternally derived
- Angelman syndrome = maternally derived/copy

43
Q

What type of NM inhertiance has both copies of chromosme pairs come from same parent & parent has determining factor?

A

Uniparental disomy

44
Q

What are examples of Uniparental disomy & their chromosome defect?

A

Silver-Russell ysndorme = maternal uniparental disomy of ch7

Beckwith-Wiedemann syndrome = paternal uniparental disomy of ch 11
-> Microcephaly, Macroglossia, Umbilical hernia

45
Q

What NM inhertiance has defecct in oxidateive phosphorylation system with maternal inheritance of sperm mitochondria eliminated from the embryo?

A

Mitochondrial disorders

46
Q

What disorder is an example of mitochondrial disorders?

A

Kears-Sayre syndrome = progressive ophthalmoplegia w/ pigmentary retinopathy

47
Q

What are examples of multifactorial and polygenetic inheritance?

A

Pyloric stenosis
Hirschprung disase
Diabetes mellitus
CAD
Schizophrenia

48
Q

Wha tre the 3 types of chromosomal anomalies?

A

Numerical abnormalities
Sex chrosomosal polysomies
Structural abnormalites

49
Q

What is the cause of numerical abnormality?

A

Failure of chromosomes to separate normally during meiosis (nondisjunction)?

50
Q

What are eaxmples if numerical abnormalities?

A

Monosomy
Trisomy
Polyploidy and mosaicism

51
Q

What are the diff trisomy disorders?

A

Trisomy 21 = down syndrome
Trisomy 18 - edwards syndrome
Trisomy 13 = Patau’s syndrome

52
Q

What er the common risks for trisoomy?

A

Women w/ advanced maternal age of 35yo

53
Q

What are the characteristic of Down syndrome?

A

Defect in ch 21

  • broad flat face
  • slanted palpebral fissues
  • epicanthal folds
  • short nose
  • Simian crease

COmplications:
- COngenital <3 defects = Endocardial cushion defect/AVSD
- GIT problems = duodenal atresia
- immune dysfunction
- hearing & visual problems

54
Q

What is defective in Edwards syndorme & clin manifesation?

A

Ch 18

Small mouth, small jaw, short neck
Malformed ears
Clenched hands w/ overlapping fingers
Rocker bottom feet (pathognomic)
Short palpebtal fissures
Short nose
Low set and small ears with dysplastic helices
Micrognathia

55
Q

What are the defect in Patau’ s syndorme?

A

Trisomy 13

Clin manifesations
- POLYDACTYLY
- cleft lip & or palate
- microcephaly, absent eyebrows

56
Q

What is the most common disorder seen in Monosomy?

A

Turner syndrome (45X) = lack of secondary sex characteristics

  • ovarian dysgenesis
  • infantile uterus
  • poor breast development
57
Q

What are the disorders affected by Polysomy?

A

Klinfelter syndrome (47XXY)

58
Q

What is the most common effect of Klinefelter syndrom ein males & its clin manifesations?

A

Primary hypoganidism

Tall stature
Gynecomastia
Small testes
Variability of intelligence
Behavioral problems: learning disabilities & language deficits

59
Q

What are the different structural anomalies?

A

Deletion = Cri du chat syndrome

60
Q

What is deleted in Cri du chat syndrome?

A

Deletion of short arm of chrosome 5

  • cry of the cat syndrome = characteristic cry of px that sounds similar to a cat
61
Q

What is the newborn screning act of 2004?

A

RA 9228

24 hrs of life but not later than 3 days complete newborn screening

62
Q

What is the tx of phenylketonuria?
A. Low galactose diet
B. Dietary restriction of eggs, cheese, and pork chops
C. Cortisol and mineralocorticoids replacement
D. Liver transplantation

A

B = low protein diet & use of Phe

A = decrease consumption of galactose
C= CAH tx includes hormone replacement medication (classic), minimal amt of steroids (non-classic)
D = tx for familial hypercholesterolemia

63
Q

What is the most common inherited form of cognitive impairment?
A. Clasic phenylketonuria
B. Down syndrome
C. Crouzon syndrome
D. Fragile X syndrome

A

D = triple repeat expansion disorder
- it includes myotonic dystrophy, Huntington, spinocerebellar ataxias
- most common inherited mental disorder especially in boys

64
Q

A px was diagnosed to have a disease caused by a defect on the tumor suppressor gene on chrosome 17. The treatment of this condition mainly involves the prevention of complications. This includes:
A. Surgery
B. Enzyme supplements
C. Statins
D. Beta blockers

A

A = case of Neurofibromatosis type 1 (Von Recklinghausen)
- control of symptoms & prevent complications, surgery for the tumors and correct malformations

C = Tx for Familial hypercholesterolemia
D = tx for Marfans

65
Q

Ms Reyes did not know that she married her first cousin on her father’s side whom she had not met since birth until a year ago. What would be the chance that they will have an offspring with an autosomal recessive condition?
A. 10-15%
B. 40-50%
C. 6-8%
D. 3-5%

A

C = autosomal recessive inheritance
- 25% recurrence risk for parents with a previously affected child
- increased possibility to consanguinity (1st degree cousins) to have 6-8% chance of having child with that condition

66
Q

flexed big toe & prominent heels are features of what syndrome?
A. Down
B. Patau
C. Edward
D. Crouzon

A

C = Trisomy 18
- Rocker bottom feet (pathognomonic)
- short palpebral fissure, short nose, low set & small ears with dysplastic helices, micrognathia

67
Q

Missense mutation as seen in sickle cell disease is classified under what class of mutation
A. Inversion
B. Deletion
C. Insertion
D. Substitution

A

D. Causes Silent, missense or nonsense mutation
- Missense: substitution of valine at 6th position of beta chain of Hgb

68
Q

A child was noticed to have upward and slanted palpebral fissue & a protruding large wrinkled tongue. She also has mild mental and growth retardation. History revealed hypotonia at birth. What would be the most commonly associated GI defect in this child?
A. Duodenal atresia
B. Intussusception
C. Volvolus
D. Jejunal atresia

A

A = most common GIT problem in px with Down syndrome

69
Q

In which genetic condition does advanced maternal age play an important role?
A. Klinefelter syndrome
B. Kearns-Sayre syndrome
C. Turner syndrome
D. Cri du chat syndrome

A

A. Klinefelter syndrome
- prototype of polysomy (47XXY) characterized by tall stature, gynecomastia, small testes, and var of intelligence

70
Q

The type of anemia seen in px with G6PD once they are exposed to certain drugs and food is?
A. Hemolytic anemia, non-immune
B. Aplastic anemia
C. Pernicious anemia
D. IDA

A

A = nasisira yung cell membrane kapag G6PD kaya hemolytic anemia

71
Q

Replacement of a single nucleotide results to the translation of the AA. This is an exmaple of what mutation?
A. Silent
B. Missense
C. Nonsense
D. Frameshift

A

A = single-base changes that do not affect the AA bcos there may be several triplet codons that respond to a single AA

72
Q

The syndrome characterized by microcephaly, large tongue, and umbilical hernia is governed by what type of inheritance?
A. Genomic imprinting
B. Uniparental disomy
C. Triple repeat expansion
D. Mitochondrial disorders

A

B. Refers to Beckwith-Wiedemann syndome
- paternal uniparental disomy of Ch 11

Silver-Russel syndrome
- maternal uniparental disomy of Ch 7

73
Q

Accumulation of lipid-laden macrophages in the skin and tensons in familial hypercholesterolemia are called?
A. Xanthomas
B. Lipomas
C. Ganglion cysts
D. Xanthelasmas

A

A. Xanthomas

B. Lipomas = fatty tymor below skin
C. Ganglion cysts = gluid leaks out of joints
D. Xanthelasmas = yellowish plaque on eyelids or periorbital skin

74
Q

Webbing of the neck is commonly seen among px with the ff karyotype?
A. 46XY
B. 45X
C. 47XXY
D. 47XYY

A

B. Turner syndrome

A. Disorder of sex devt
C. Klinefelter
D. Jacob’s

Pediatrics (5 decks)

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