Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Pediatrics > Genetics > Flashcards

Genetics Flashcards

1
Q

What are the different types of genetic variations?

A

Substitution
Deletion
Insertion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the 3 types of substitutiom?

A

Silent/Synonymous/Wobble
Missense
Nonsense

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What causes frameshift mutations?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

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

A

Missense

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

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

A

Nonsense

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the principle that different genes are inherited separately?

A

Principle of independent assortment
Principle of segregation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

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

A

If autosomal dominant -> 50%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the diff autosomal dominant conditiobs?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What aer the defects in Familiarl hypercholesterolemia?

A

LDL-R gene on chromosome 19

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are tx for Familial hyprecholesterolemia?

A

Statins
Lifestyle changes
LPP apheresis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

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

A

Osteogenesis imperfecta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the mutation in Osteogenesis imperfecta?

A

Lack of type 1 collagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

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

A

Neurofibromatosis type 1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is the defect in NFT 1?

A

Tumor suppressor gene NF-1 on chromsome 17

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is the tx of NFT 1?

A

Surgery
Radiation/chemotherapy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

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

A

25% recurrence risk for parents w/ prev affected child

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

WHAT ARE THE diff autosomal recessive disorders?

A

CAH
MSUD
Phenylketonuria
GalactosemiA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
WHAT GENe is defect in phenylketonuria?
Mutation in PAH gene in chromosome 12
26
What r the causes of Galactosemia?
Galactose-1 phosphate uridyltransferase Galactokinase Uridine diphosphate-galactose-4-epimerase
27
What are the clinical features of Galactosemia?
Jaundice Hepatomegaluy Vomiting Hypoglycemia Convulsions Lethargy Irritability Poor weight gain Feeding difficulties
28
What are the enzymes defect in CAH?
21-hydroxylae deficiency (ch 6) 11 beta hydroxylase def (chr 8) 3-beta hydroxysteroid dehydrogenase def (ch 1) Congenital lipoid adrenal hyperplasia (ch 8)
29
What are the subcategories of CAH?
Salt wasting Non -salt wasting/simple virilizing CAH
30
What rea the classical symptoms of phenylketonuria?
Light-haired Fair-skinned Severe Mental retardation Impaired brain development
31
What are the chances of affecting son and daughter of an x-linked recessive disorder?
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
What is the hallmark of Hemophilia?
Hemarthrosis
33
What is the mutation defect in Duchenne muscular dystrophy?
Dystrophin gene -> responsible for connecting muscle fibers to ECM
34
what are the primary symptoms important in DMD?
Progressive proximal muscular weakness
35
What is the postiive sign of DMD?
+ Gower’s disgn = child assumes hands & knees position then climbing to a stand by walking his hands up his shins, kness and thighs
36
What drug can slow down loss of muscle strength in DMD?
Steroids
37
What are the clin manfiestations of G6PDD?
Hemolytic anemia Hemoglobinuria Jaundice
38
What are the diff non-mendelian inheritance?
Triplet repeat expansion disorders Genomic impringting Uniparental disomy Mitochondrial disorders Mutifactorial inhertiance
39
What NM inheritance results from abnormal expansion of reptitive sequences characterized by unstable DNA?
Triple repeat expansion disorders
40
What are exampels of triplet repeat expansion disorders?
Fragile X syndrome Myotonic dystrophy Huntington disease Spinocerebrallar ataxias
41
What NM inhertiance has gene silencing where 1 copy of gene is transcribed while other copy is silence?
Genomic imprinting - genetic hcnage does not change DNA sequence
42
What are examples of genomic imprinting?
Microdeletion on chromsome 15q11-13 - Prader willi syndrome = paternally derived - Angelman syndrome = maternally derived/copy
43
What type of NM inhertiance has both copies of chromosme pairs come from same parent & parent has determining factor?
Uniparental disomy
44
What are examples of Uniparental disomy & their chromosome defect?
Silver-Russell ysndorme = maternal uniparental disomy of ch7 Beckwith-Wiedemann syndrome = paternal uniparental disomy of ch 11 -> Microcephaly, Macroglossia, Umbilical hernia
45
What NM inhertiance has defecct in oxidateive phosphorylation system with maternal inheritance of sperm mitochondria eliminated from the embryo?
Mitochondrial disorders
46
What disorder is an example of mitochondrial disorders?
Kears-Sayre syndrome = progressive ophthalmoplegia w/ pigmentary retinopathy
47
What are examples of multifactorial and polygenetic inheritance?
Pyloric stenosis Hirschprung disase Diabetes mellitus CAD Schizophrenia
48
Wha tre the 3 types of chromosomal anomalies?
Numerical abnormalities Sex chrosomosal polysomies Structural abnormalites
49
What is the cause of numerical abnormality?
Failure of chromosomes to separate normally during meiosis (nondisjunction)?
50
What are eaxmples if numerical abnormalities?
Monosomy Trisomy Polyploidy and mosaicism
51
What are the diff trisomy disorders?
Trisomy 21 = down syndrome Trisomy 18 - edwards syndrome Trisomy 13 = Patau’s syndrome
52
What er the common risks for trisoomy?
Women w/ advanced maternal age of 35yo
53
What are the characteristic of Down syndrome?
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
What is defective in Edwards syndorme & clin manifesation?
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
What are the defect in Patau’ s syndorme?
Trisomy 13 Clin manifesations - POLYDACTYLY - cleft lip & or palate - microcephaly, absent eyebrows
56
What is the most common disorder seen in Monosomy?
Turner syndrome (45X) = lack of secondary sex characteristics - ovarian dysgenesis - infantile uterus - poor breast development
57
What are the disorders affected by Polysomy?
Klinfelter syndrome (47XXY)
58
What is the most common effect of Klinefelter syndrom ein males & its clin manifesations?
Primary hypoganidism Tall stature Gynecomastia Small testes Variability of intelligence Behavioral problems: learning disabilities & language deficits
59
What are the different structural anomalies?
Deletion = Cri du chat syndrome
60
What is deleted in Cri du chat syndrome?
Deletion of short arm of chrosome 5 - cry of the cat syndrome = characteristic cry of px that sounds similar to a cat
61
What is the newborn screning act of 2004?
RA 9228 24 hrs of life but not later than 3 days complete newborn screening
62
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
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
What is the most common inherited form of cognitive impairment? A. Clasic phenylketonuria B. Down syndrome C. Crouzon syndrome D. Fragile X syndrome
D = triple repeat expansion disorder - it includes myotonic dystrophy, Huntington, spinocerebellar ataxias - most common inherited mental disorder especially in boys
64
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 = 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
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%
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
flexed big toe & prominent heels are features of what syndrome? A. Down B. Patau C. Edward D. Crouzon
C = Trisomy 18 - Rocker bottom feet (pathognomonic) - short palpebral fissure, short nose, low set & small ears with dysplastic helices, micrognathia
67
Missense mutation as seen in sickle cell disease is classified under what class of mutation A. Inversion B. Deletion C. Insertion D. Substitution
D. Causes Silent, missense or nonsense mutation - Missense: substitution of valine at 6th position of beta chain of Hgb
68
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 = most common GIT problem in px with Down syndrome
69
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. Klinefelter syndrome - prototype of polysomy (47XXY) characterized by tall stature, gynecomastia, small testes, and var of intelligence
70
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 = nasisira yung cell membrane kapag G6PD kaya hemolytic anemia
71
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 = single-base changes that do not affect the AA bcos there may be several triplet codons that respond to a single AA
72
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
B. Refers to Beckwith-Wiedemann syndome - paternal uniparental disomy of Ch 11 Silver-Russel syndrome - maternal uniparental disomy of Ch 7
73
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. 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
Webbing of the neck is commonly seen among px with the ff karyotype? A. 46XY B. 45X C. 47XXY D. 47XYY
B. Turner syndrome A. Disorder of sex devt C. Klinefelter D. Jacob’s

Pediatrics (5 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions