Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

COMAT - Peds > Genetic Disease > Flashcards

Genetic Disease Flashcards

1
Q

What often causes Trisomy 21 (Down Syndrome)?

A

Meiotic Nondisjunction

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

What are the signs of Trisomy 21?

A

Flat face
Epicanthal folds with upslanting eyes
Single palmar crease
Extra neck folds

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

What may be seen on prenatal US with Trisomy 21?

A

Nuchal folds

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

What 3 conditions are commonly associated with Trisomy 21?

A

AA instability
Duodenal Atresia
Cardiac defects - AV > ASD > VSD

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

What 3 conditions are Trisomy 21 kids at an increased risk for?

A

ALL
Hypothyroidism
Early onset Alzheimers

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

What is another name for Trisomy 18?

A

Edwards Syndrome

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

What are the signs of Trisomy 18?

A

Rocker bottom feet
Low-set ears
Overlapping fingers
Small jaw with prominent occiput

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Horseshoe kidneys are often associated with which trisomy?

A

Trisomy 18

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

What is another name for Trisomy 13?

A

Patau Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are the signs of Trisomy 13?

A

Cleft lip/palate
Holoprosencephaly
Scalp lesions
Polydactyly
Omphalocele

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Klinefelter Syndrome chromosomal change?

A

47 XXY

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

Signs of Klinefelter Syndrome (47XXY)?

A

Male with tall stature, testicular atrophy, gynecomastia and female hair distribution

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the treatment for Klinefelter Syndrome?

A

Testosterone

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

Turner Syndrome chromosomal change?

A

45 XO

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

Signs of Turner Syndrome (45 XO)?

A

Female with short stature, shield chest, widely spaced nipples, webbed neck, ovarian dysgenesis

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

What cardiovascular anomalies are seen with Turner Syndrome?

A

Coarctation of the aorta
Bicuspid aortic valve

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What may be seen in infant life with Turner syndrome?

A

Lymphedema of the hands and feet

18
Q

What is the treatment for Turner Syndrome?

A

Estrogen

19
Q

Why will primary amenorrhea occur with Turner Syndrome?

A

Ovarian dysgenesis

20
Q

What causes Cystic Fibrosis?

A

AR mutation in CFTR gene (Cl- channel) on chromosome 7

21
Q

What may be the first sign of Cystic Fibrosis?

A

Meconium Ileus
- Failure to pass meconium

22
Q

An elevated sweat chloride test indicates?

A

CF

23
Q

CF patients have thick mucus and recurrent respiratory infections with what 2 pathogens?

A

Staph Aureus
Pseudomonas Aeruginosa

24
Q

Why do CF patients have Steatorrhea (fatty stools)?

A

They have exocrine pancreatic insufficiency, so they have less pancreatic enzymes which means they cannot absorb fat –> excreted in stool

25
Q

Why may males with CF be infertile?

A

Absence of vas deferens

26
Q

What vitamins will be deficient with CF and what can that cause?

A

Fat soluble ADEK
- Night blindness, rickets, neuropathy, coagulopathy

27
Q

What are the initial treatments for CF?

A

Chest physical therapy, bronchodilators/ICS
Pancreatic enzymes and Vit. ADEK
High protein/calorie diet

28
Q

What drug enhances CFTR channel activity for CF patients?

A

Ivacaftor

29
Q

What is Ivacaftor?

A

A drug for CF that enhances CFTR activity

30
Q

Fragile X involves what trinucleotide repeats in what gene? It is inherited how?

A

CGG in FMR1 - effects methylation/expression
- X - linked Dominant

31
Q

What are the 4 signs of Fragile X?

A

Large ears
Large jaw
Large gonads
Autistic behaviors

32
Q

Friedreich Ataxia involves what trinucleotide repeats and what abnormal protein?

A

GAA repeats cause an abnormal frataxin protein

33
Q

What are the signs of Friedreich Ataxia?

A

Gait ataxia
Diabetes
Cardiac manifestations

34
Q

What causes Phenylketonuria and what will be elevated? What will be low?

A

Deficient Phenylalanine Hydroxylase or Low TH4
- Elevated Phenylalanine
- Low Tyrosine

35
Q

Signs of Phenylketonuria?

A

Musty urine odor
Fair skin, blonde hair, blue eyes
Eczema

36
Q

What is deficient with Gaucher disease and what are manifestations?

A

Deficient Glucocerebrosidase
= Neurologic decline + anemia/thrombocytopenia

37
Q

What is deficient with Niemann Pick Disease and what are the manifestations?

A

Deficient Sphingomyelinase
= Cherry red spot + hepatosplenomegaly

38
Q

What is deficient with Tay Sachs Disease and what are the manifestations?

A

Deficient Hexoaminidase A
= Cherry red spot + startled + regressions

39
Q

How is Hurler Syndrome inherited and what will be present?

A

AR
= Corneal clouding

40
Q

How is Hunter Syndrome inherited and what will NOT be present?

A

X-linked recessive
= NO corneal clouding

COMAT - Peds (12 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions