Brainscape's Knowledge GenomeTM

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


See full index

PEDIA Y3 > Human Genetics: Patterns of Inheritance > Flashcards

Human Genetics: Patterns of Inheritance Flashcards

1
Q

The ff. can have genetic testing EXCEPT

a. Normal adult asking if he/she can develop certain genetic condition
b. Mother asking if her newborn baby can have a genetic condition
c. Pregnant mother asking if she should abort her baby
d. Couple wanting to be assured that they will have a normal child when they get pregnant

A

C

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

True of predictive testing

a. Genetic testing that will predict the risk of disease
b. genetic variants vs. several genes together
c. presence of genetic mutation does not necessarily mean disease will develop
d. Usually done for disorders that display age dependent penetrance
e. A and B
f. C and D

A

F; A and B is predispositional testing

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

What kind of test did Angelina Jolie have?

a. Predictive
b. Predispositional
c. Carrier testing
d. NOTA

A

A

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

Type of testing to see if individual possess a heterozygous state of an autosomal/X linked recessive gene, or translocation, or mitochondrial mutation

A

carrier testing

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

True of prenatal testing EXCEPT

a. Diagnosing genetic disorders in utero
b. Done when there is a high risk of serious and untreatable disorder if there is an option to terminate
c. Ultrasound can be enough

A

C

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

Prenatal screening: Amniocentesis is used to detect

A

chromosomal abnormalities, open NTD

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

Prenatal screening: Chorion biopsy is used for

A

Chromosomal abnormalities, DNA and enzyme analysis

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

Prenatal screening: to detect Placental localization, gestational dating, exclusion of twins,structural malformations

A

ultrasound scan

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

Prenatal screening: to detect thalassemias, related disorders

A

fetal blood and tissue sampling

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

Prenatal screening: Maternal blood biochemical screening include (4)

A

AFP
beta-hCG
Estriol

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

Prenatal Screening: NTD and Down syndrome can be indicated by maternal blood biochemical screening by detecting ____

A

AFP

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

Prenatal Screening: beta hCG and estriol in maternal blood biochemical screening may indicate

A

Down Syndrome

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

T/F Nuchal lucency in UTZ is specific for Down Syndrome

A

F

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

Prenatal screening wherein after cultivation of the embryo to the 8 cell stage, one cell (blastomere), typically, is removed for molecular cytogenetic or molecular genetic analysis

A

Preimplantation Diagnosis

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

AIM of Newborn screening include the ff EXCEPT

a. population screening of neonates
b. Identify babies at increased risk of untreatable diseases
c. Disease conditions are not easily detected clinically
d. Diagnosis and early initiation of treatment
e. Are necessary to prevent, delay or reduce disability

A

B

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

Newborn Screening Act of 2004 EXCEPT

a. Republic act 9286
b. requires all health facilities to offer newborn screening
c. NBS services is included in licensing rqts for hospitals and birthing facilities
d. health practicitioners has an obligation to inform

A

A. RA 9288

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

A positive NBS warrants treatment

T/F

A

F; confirmatory test first.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Peyton wants to know if he carries the mutation for adult-onset Huntington disease that his father had.

a. Predictive testing
b. Predispositional testing
c. Carrier Testing
d. Prenatal Testing
e. Preimplantation Genetic Diagnosis
f. Genetic Screening

A

A

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

Amelia just learned that her brother has adult unset X-linked Dystonia Parkinsonism. She is worried about her young children.

a. Predictive testing
b. Predispositional testing
c. Carrier Testing
d. Prenatal Testing
e. Preimplantation Genetic Diagnosis
f. Genetic Screening

A

C

20
Q

Heidi is 39 y.o. and pregnant. Her OB wants her to have a congenital anomaly scan at 5-6 mos AOG

a. Predictive testing
b. Predispositional testing
c. Carrier Testing
d. Prenatal Testing
e. Preimplantation Genetic Diagnosis
f. Genetic Screening

A

D

21
Q

Phenotype of the heterozygote is the same as the phenotype of one of the homozygotes

A

Dominance

22
Q

Phenotype of the heterozygote is intermediate between phenotypes of two homozygotes

A

Incomplete Dominance

23
Q

Phenotype of the heterozygote includes the phenotypes of both homozygotes

A

Codominance

24
Q

Percentage of individuals with a given genotype who exhibit the phenotype associated with that genotype

A

Penetrance

25
Q

Measures the extent to which a given genotype is expressed in the phenotype

A

Expressivity

26
Q

When not every cell in the body has the same DNA; but definitely from one cell line

A

Mosaicism

27
Q

Type of mosaicism that affect morphogenesis

A

Somatic mosaicism

28
Q

Type of mosaicism wherein sperm/ ova carry DNA change that isn’t present in their other cell types

A

Germ Cell Mosaicism

29
Q

Disorders with multifactorial/polygenic inheritance with continuous variation (3)

A

BP
Height
HC

30
Q

Disorders with multifactorial/polygenic inheritance with threshold rate (3)

A

CL/P, pyloric stenosis, CHD

31
Q

T/F Obesity and Diabetes has Skewed X-inactivation as mode of inheritance

A

F; multifactorial/Polygenic

32
Q

T about genetic imprinting

a. one allele may be active and the other inactivated
b. Imprinting occurs in all chromosomes
c. All regions of imprinted chromosomes are methylated
d. A and C

A

A

33
Q 
TNR sequence of the ff:
Huntington
Myotonic Dystrophy
Fragile X
Fredrich's ataxia
A

Huntington: CAG
Myotonic Dystrophy: CTG
Fragile X: CGG
Friedrich’s Ataxia: GAA

34
Q

TNR exhibit ______ which means there is clinical correlation to the size of the expansion with a greater expansion causing more severe or earlier age of onset of disease

A

Genetic anticipation

35
Q

Gene involved in Fragile X syndrome

A

FMR1

36
Q

Normal # of TNR for Fragile X

A

Below 60

37
Q

Premutation # of TNR for Fragile X

A

60-200

38
Q

of TNR for Fragile X Manifestation

A

> 200

39
Q

Submicroscopic deletions too small to be detected by microscopy, 1-3MB long, several contiguous genes. This is called _______

A

Microdeletions

40
Q

Examples of microdeltions EXCEPT

a. Williams Syndrome
b. Cri du Chat
c. Jacobsen
d. Myotonic Dystrophy

A

D

41
Q

Disease with Encephalomyopathy, lactic acidosis, stroke-like episodes, small stature, migraine, DM

A

MELAS

42
Q

MELAS means

A

Myoclonic epilepsy with lactic acidosis and stroke-like episodes

43
Q

Disease with ecephalomyopathy, neuropathy, progressive dementia, myoclonic epilepsy with “ ragged red fibers”

A

MERRE

44
Q

What does MERRE mean

A

Myoclonic epilepsy with ragged red fibers, encephalomyopathy

45
Q

Ophthalmoplegia, pigmentary retinopathy, cardiomyopathy

A

Kearns-Sayer syndrome

PEDIA Y3 (19 decks)

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