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D & D Exam 2 > Chapter 6 > Flashcards

Chapter 6 Flashcards

1
Q

Chromosomal rearrangement

A

Deletion or duplication of a group of genes

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2
Q

Locus

A

Specific location on a gene

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3
Q

Allele

A

Different forms of DNA sequences that a gene might have

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4
Q

Homozygous

A

gene pair that is the same

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5
Q

Heterozygous

A

gene pair that is different

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6
Q

Phenotype

A

expression of a gene

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7
Q

dominant

A

trait always shows

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8
Q

recessive

A

trait doesn’t always show

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9
Q

codominance

A

both traits show

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10
Q

gene mutation

A

biochemical event which changes DNA sequence of a gene

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11
Q

Gene disorders

A

can involve a single gene trait or multiple

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12
Q

carrier

A

if you are heterozygous for a recessive trait and you do not show it then you are a carrier

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13
Q

hemizygous

A

if you only have one copy of a gene

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14
Q

Which of the following is true about an individual who is a carrier of the cystic fibrosis gene?

A

Heterozygous - doesn’t suffer from CF

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15
Q

If you have the allele for a trait, do you display the trait?

A

NO: if it is recessive

Yes: if it is dominant

Sometimes: it has intermediate penetrance

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16
Q

Intermediate penetrance

A

incomplete display of the trait, not fully showing

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17
Q

Deletion

A

Deletion of part of a chromosome leads to loss of genetic material and shortening of the chromosome

18
Q

Inversion

A

Inversion requires two breaks any single chromosome within version to the opposite side of the syndrome here or with the fragment inverting but remaining on the same arm

19
Q

Translocation

A

A reciprocal translocation involves two non-homologous chromosomes exchange of the ascentric a segment

20
Q

Isochromosome formation

A

Arise from faulty syndrome your division which leads to duplication of the long arm in deletion of the short arm or the reverse.

21
Q

ring formation

A

ring with fragments most likely

22
Q

Which type of chromosome alteration generally results in normal offspring?

A

translocation

23
Q

Mosaicism

A

2 or more cell lines that differ in genetics but come from the same zygote

24
Q

Aneuploidy

A

Chromosome number are not in exact multiple

25
Q

monosomy

A

Type of aneuploidy

Gene defect causes by incomplete set of chromosomes

26
Q

Polysomy

A

excess of a particular chromosome

27
Q

trisomy

A

type of polysomy, 3 instances of a particular chromosome instead of two

Ex: down syndrome (Trisomy 21)

28
Q

Teratogenic agents

A

Environmental agents that produce abnormalities during embryonic or fetal development

29
Q

Types of Teratogenic agents

A 
Radiation 
Chemicals/drugs
fetal alcohol syndrome (FAS)
folic acid deficiency
infectious agents
30
Q

Fetal Alchohol Syndrome

A

Babies can have behavioral issues, physical deformities, cognitive in-normalities

Drinking lasts throughout pregnancy

Clinical markers:
Smooth philtrum, small chin, flat nasal bridge, epicanthal folds, short nose, thin upper lip

31
Q

Folic Acid Deficiency

A

B12

Birth defects
Anacrphaly - absence of a brain
Spinobifeda

32
Q

TORCH

A

Infectious microorganisms that enter the placenta

Toxoplasmosis
Other (HIV, etc)
Rubella (German measles)
Cytomegalovirus
Herpes
33
Q

Molecular weight

A

Concerning drugs/medication

Higher the weight the harder it is to pass to the fetus

34
Q

Teratogenic variables

A

The harm to the fetus will depend on certain variables

  • What was the stage of the pregnancy when the mother was exposed to the drug?
  • What was the duration of exposure?
  • What was the molecular weight of the drugs?
35
Q

Ultrasound

A

Maternal screening
Noninvasive
visualizes soft tissue and bones

36
Q

Serum Markers

A

Maternal screening

  • AFP (alpha feto protein) screening for down syndrome
  • blood taken from mom
37
Q

Amniocentesis

A

Full genetic profile of fetus
Invasive
Needle in amniotic sac to remove fluid to test

38
Q

Down Syndrome

A

Extra chromosomes
Trisomy 21
Signs:
-epicanthal folds, slanted eyes, flat facial profile, big/wrinkled tongue, wide gap in toes, short hands with simian crease

Acute lymphoblastic leukemia, congenital heart disease, mental retardation

39
Q

Turner’s Syndrome

A

X/0
45 chromosomes

Signs:
Webbed neck, wide nipples, pigmented nevi, short, reproductive issues, hormonal issues, coarctation of aorta and bicuspid aortic valve, increased risk of bone fractures

40
Q

Klinefelter syndrome

A

Testicular dysgenesis

XXY

Signs:
gynecomastia, long arms and legs, narrow shoulders, lack of facial hair, tall, decreased pubic hair, wide hips, testicular atrophy

41
Q

cleft lip/palate

A

Common birth defect

Many genes are required to form this part, multiple gene mutations needed

Forms around the 30th day in utero

Concerns;
Ability to eat, nutrition
Older - speech
Even older - appearance

D & D Exam 2 (4 decks)

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