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TERM 2 BIOL2192 PATHO 1 > CH 9 CONGENITAL DISORDERS > Flashcards

CH 9 CONGENITAL DISORDERS Flashcards

1
Q

What is the process by which tissues and organs assume their form?

A

Morphogenesis

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2
Q

What is the study of fetal malformations?

A

Teratology

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3
Q

Why is the first trimester highly sensitive?

A

Organogenesis occurs

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4
Q

What will happen if the fetus is exposed to a teratogenic factor in the first two weeks of pregnancy?

A

It will likely fail to implant

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5
Q

What will happen if the fetus is exposed to teratogenic factors in the last 2 trimesters?

A

It will likely interfere with the rate of cell division

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6
Q

What is the failure of normal fusion of apposed structures?

A

Dysraphic anomalies

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7
Q

What is the persistence of fetal structures that would normally regress?

A

Involution failures

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8
Q

What is incomplete cleavage of structure e.g. syndactyly?

A

Division failure

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9
Q

What is incomplete formation of lumen of a structure e.g. esophagus?

A

Atresia

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10
Q

What is failure of organ to move into the usual position during development?

A

Dystopia

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11
Q

What are 3 classes of teratogens?

A
  1. Radiation
  2. Chemicals
  3. Infectious agents
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12
Q

What is the difference between teratogens and fetotoxins?

A

Teratogens cause morphogenetic factors, fetotoxins cause toxic effects e.g. low birth weight, premature birth, death

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13
Q

What are 2 examples of drugs that are teratogenic?

A

Diethylstibestrol (DES) and thalidomide

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14
Q

What is the term used in clinical settings to describe the collection of similar manifestations in newborns with infection?

A

TORCH syndrome

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15
Q

What is a dysraphic effect where the neural tube fails to close?

A

Anencephaly

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16
Q

What are 2 other neural tube defects that are more compatible with survival?

A

Spina bifida and meningocele

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17
Q

What can prevent neural tube defects?

A

Folic acid

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18
Q

What are 3 facial characteristics of fetal alcohol syndrome?

A
  1. Small eye openings
  2. Smooth philtrum
  3. Thin upper lip
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19
Q

What are 3 body characteristics of fetal alcohol syndrome?

A
  1. Small head
  2. Short height
  3. Low weight
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20
Q

What are 3 behavioral characteristics of fetal alcohol syndrome?

A
  1. Poor coordination
  2. Hyperactive
  3. Learning difficulties
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21
Q

What is severely impaired limb development seen in thalidomide babies?

A

Phocomelia

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22
Q

What is thalidomide used for now?

A

Anti-neoplastic drugs

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23
Q

What are 3 categories of congenital disorders based on the cause?

A

Single gene disorders
Polygenic disorders
Multifactorial disorders

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24
Q

What 2 terms describe whether the gene mutation is found on one or both chromosomes?

A

Heterozygous or homozygous

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25
What are the 4 Mendelian patterns of single gene disorders?
Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive
26
What is a progressive neurological autosomal dominant disorder that causes loss of motor control and is characterized by delayed onset?
Huntington Disease
27
What is an autosomal dominant disorder that leads to lesions in nerves and skin?
Neurofibromatosis
28
What is a disorder that features delayed onset and enlarged kidneys with multiple cysts?
Autosomal dominant polycystic kidney disease
29
What is an autosomal dominant disorder of connective tissue that may lead to long limbs, thoracic malformation, scoliosis, and cardiovascular abnormalities?
Marfan syndrome
30
In autosomal recessive disorders, if 2 carriers have a child, what is the chance of the child being affected?
1 in 4
31
What is the term for blood relatives?
Cosanguineous
32
What are the most prevalent autosomal recessive disorders?
Thalassemias
33
What happens in thalassemia?
Error on genes that form erythrocytes, resulting in abnormal RBCs that are destroyed by spleen
34
What happens in sickle cell disease?
In hypoxic conditions, hemoglobin will assume an abnormal form
35
Which autosomal recessive disorder is a lipid storage abnormality due to lysosomal dysfunction which causes severe neurological toxicity and maldevelopment?
Tay-Sachs disease
36
Which autosomal recessive disorder is characterized by the presence of abnormally viscous mucus?
Cystic fibrosis
37
Why are x-linked dominant disorders more serious in males?
They are hemizygous
38
Which x-linked dominant disorder reduces the concentration of a protein required for normal development of neuronal connections?
Fragile X syndrome
39
How does Fragile X syndrome present?
Intellectual disability, low muscle tone, long face, large ears, large testes
40
Which x-linked recessive disorder manifests as severe muscle wasting and loss of control of limbs and spine?
Duchenne disease
41
What are patches of cells with altered genotypes that diverge from the initial fertilized cell?
Genetic mosaics
42
What is the probability that a gene is expressed?
Gene penetrance
43
What is a high penetrance disorder that involves a tumour of the eye?
Retinoblastoma
44
What is an imcomplete penetrance disorder that involves defective production of collagen?
Osteogenesis imperfecta
45
What is the degree to which trait expression differs between individuals?
Expressivity
46
What is the observation that genes will be expressed in an individual differently depending on which parent donated the gene?
Genomic imprinting
47
How common are chromosomal abnormalities?
1 in 50 conceptions
48
What is the occurence of multiple copies of the entire chromosome set?
Polyploidy (includes triploidy and tetraploidy)
49
What is the term for a cell that has the normal amount of chromosomes?
Euploid
50
What is the term for when tissues are a mix of triploid and euploid cells?
Mixoploidy
51
What is the term for cells that have either too many or too few of a specific chromosome?
Aneuploidy
52
What is the term for cells having a set of three of a specific chromosome?
Trisomy
53
Which aneuploid condition manifests as feminization of the male?
Klinefelter syndrome (XXY)
54
What determines how severe aneuploid conditions are?
Whether the abnormal number of chromosomes is in all cells or only in select tissues
55
Which syndrome has a similar incidence to Klinefelter syndrome but in females?
Triple X syndrome
56
What aneuploid condition happens only in girls and presents with short stature and absence of normal reproductive development?
Turner syndrome (X0)
57
What is another term for Down Sydrome
Trisomy 21
58
Which aneuploid conditions involve serious multi-organ system defects, and are also called trisomy 13 and 18
Patau syndrome and Edward syndrome
59
What are 4 types of chromosomal errors?
1. Deletion 2. Duplication 3. Inversion 4. Translocation
60
Which chromosomal deletion disorder results in microcephaly, intellectual impairment, hypotonia, cardiac defects, and facial malformation?
Cri du chat syndrome

TERM 2 BIOL2192 PATHO 1 (11 decks)

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