3SQ2 Flashcards
What should a modern genetic counselor possess? Select all
- 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
A female patient fears having the BRCA1 gene, which of the following is the reason for genetic testing?
Family history of cancer
A male patient has a pre-diabetic status, which is the reason for genetic testing from the following?
Family history of multifactorial disease
Which does not belong to the group: Prenatal FISH, Pedigree construction, Family history assessment, Karyotyping
None of the above
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.
15 to 20
This individual (adopted) may be better used to see if _____ affects the expression of traits of siblings, except?
genetic inheritance
BONUS: In real pedigrees, further complications can arise due to i____e p______ (including age of onset) and v______ e______ of disease alleles.
Incomplete penetrance, variable expressivity
Identify the meaning of this symbol in pedigree analysis
No answer (deceased female)
Who among these physically experiences the following symbol? (Miscarriage)
Mother
Which is true of this symbol in pedigree analysis?
- Symbol is seen in X-linked recessive inheritance
This symbol (stillbirth) represents:
A fetus carried to term but died before or during childbirth
These individuals have progeny (symbol for no children)
False
In pedigree, this individual is called (Male with arrow)
Proposito
True of the relationship here: (Consanguinity)
- Increases the risk of inheritance of a recessive trait
- Involves mating between second cousins
Select the proper terms for the following:
1) marriage line
2) line of descent
3) sibling line
4) generation number
Identify the mode of inheritance shown in pedigree
Autosomal recessive
What is the genotype of individual 12?
Autosomal heterozygote (Half shaded)
What is an example of the mode of inheritance you have previously answered?
Cystic Fibrosis
Which is an example of a condition inherited in this pattern? (Mitochondrial)
LHON
Which concept is correlated with the inheritance seen previously? (Mitochondrial)
Heteroplasmy
C_____ m_____ increases the risk of seeing recessive trait in the family line.
Consanguineous Marriage
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.
1-Y (monozygotic), 2-X (dizygotic)
This kind of inheritance above (Y-linked)
Holandric
Newborn screening is important in early diagnosis of i______ ____ __ m____
inborn errors of metabolism
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.
Adrenal
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.
Phenylketonuria
This autosomal disease has penetrance and is dependent on replication of CAG repeats.
Huntington’s Disease
This x-linked recessive disease shows up as deep tissue bleeds after accidents and is due to absent factor 9.
Hemophilia B
