3SQ2

Question 1

What should a modern genetic counselor possess? Select all

Answer 1

• Should have a Master’s degree in genetic counselling
• Should have good psychosocial skills foundation
• Should be able to interpret results of genetic analysis
• Should be able to advise patients regarding genetic testing

Question 2

A female patient fears having the BRCA1 gene, which of the following is the reason for genetic testing?

Answer 2

Family history of cancer

Question 3

A male patient has a pre-diabetic status, which is the reason for genetic testing from the following?

Answer 3

Family history of multifactorial disease

Question 4

Which does not belong to the group: Prenatal FISH, Pedigree construction, Family history assessment, Karyotyping

Answer 4

None of the above

Question 5

BONUS: Amniocentesis is performed between _______ weeks into the pregnancy. By around this time, the developing baby is suspended in about 130ml of amniotic fluid, which the baby constantly swallows and excretes.

Answer 5

15 to 20

Question 6

This individual (adopted) may be better used to see if _____ affects the expression of traits of siblings, except?

Answer 6

genetic inheritance

Question 7

BONUS: In real pedigrees, further complications can arise due to i____e p______ (including age of onset) and v______ e______ of disease alleles.

Answer 7

Incomplete penetrance, variable expressivity

Question 8

Identify the meaning of this symbol in pedigree analysis

Answer 8

No answer (deceased female)

Question 9

Who among these physically experiences the following symbol? (Miscarriage)

Answer 9

Mother

Question 10

Which is true of this symbol in pedigree analysis?

Answer 10

• Symbol is seen in X-linked recessive inheritance

Question 11

This symbol (stillbirth) represents:

Answer 11

A fetus carried to term but died before or during childbirth

Question 12

These individuals have progeny (symbol for no children)

Answer 12

False

Question 13

In pedigree, this individual is called (Male with arrow)

Answer 13

Proposito

Question 14

True of the relationship here: (Consanguinity)

Answer 14

• Increases the risk of inheritance of a recessive trait
• Involves mating between second cousins

Question 15

Select the proper terms for the following:

Answer 15

1) marriage line
2) line of descent
3) sibling line
4) generation number

Question 16

Identify the mode of inheritance shown in pedigree

Answer 16

Autosomal recessive

Question 17

What is the genotype of individual 12?

Answer 17

Autosomal heterozygote (Half shaded)

Question 18

What is an example of the mode of inheritance you have previously answered?

Answer 18

Cystic Fibrosis

Question 19

Which is an example of a condition inherited in this pattern? (Mitochondrial)

Answer 19

LHON

Question 20

Which concept is correlated with the inheritance seen previously? (Mitochondrial)

Answer 20

Heteroplasmy

Question 21

C_____ m_____ increases the risk of seeing recessive trait in the family line.

Answer 21

Consanguineous Marriage

Question 22

If ____ are considerably more similar than _____ (which is found for most traits), this implies that genes play an important role in these traits more than sex or environment.

Answer 22

1-Y (monozygotic), 2-X (dizygotic)

Question 23

This kind of inheritance above (Y-linked)

Answer 23

Holandric

Question 24

Newborn screening is important in early diagnosis of i______ ____ __ m____

Answer 24

inborn errors of metabolism

Question 25

BONUS: Congenital ______ hyperplasia, a condition of affecting the walnut organs above the kidney that encompasses a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both.

Answer 25

Adrenal

Question 26

Classical p________ which is an autosomal recessive disorder, caused by mutations in both alleles of the gene for Phenylalanine hydroxyalse (PAH), found on chromosome 12.

Answer 26

Phenylketonuria

Question 27

This autosomal disease has penetrance and is dependent on replication of CAG repeats.

Answer 27

Huntington’s Disease

Question 28

This x-linked recessive disease shows up as deep tissue bleeds after accidents and is due to absent factor 9.

Answer 28

Hemophilia B