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
Q

What are the 4 Mendelian patterns of single gene disorders?

A

Autosomal dominant
Autosomal recessive
X-linked dominant
X-linked recessive

26
Q

What is a progressive neurological autosomal dominant disorder that causes loss of motor control and is characterized by delayed onset?

A

Huntington Disease

27
Q

What is an autosomal dominant disorder that leads to lesions in nerves and skin?

A

Neurofibromatosis

28
Q

What is a disorder that features delayed onset and enlarged kidneys with multiple cysts?

A

Autosomal dominant polycystic kidney disease

29
Q

What is an autosomal dominant disorder of connective tissue that may lead to long limbs, thoracic malformation, scoliosis, and cardiovascular abnormalities?

A

Marfan syndrome

30
Q

In autosomal recessive disorders, if 2 carriers have a child, what is the chance of the child being affected?

A

1 in 4

31
Q

What is the term for blood relatives?

A

Cosanguineous

32
Q

What are the most prevalent autosomal recessive disorders?

A

Thalassemias

33
Q

What happens in thalassemia?

A

Error on genes that form erythrocytes, resulting in abnormal RBCs that are destroyed by spleen

34
Q

What happens in sickle cell disease?

A

In hypoxic conditions, hemoglobin will assume an abnormal form

35
Q

Which autosomal recessive disorder is a lipid storage abnormality due to lysosomal dysfunction which causes severe neurological toxicity and maldevelopment?

A

Tay-Sachs disease

36
Q

Which autosomal recessive disorder is characterized by the presence of abnormally viscous mucus?

A

Cystic fibrosis

37
Q

Why are x-linked dominant disorders more serious in males?

A

They are hemizygous

38
Q

Which x-linked dominant disorder reduces the concentration of a protein required for normal development of neuronal connections?

A

Fragile X syndrome

39
Q

How does Fragile X syndrome present?

A

Intellectual disability, low muscle tone, long face, large ears, large testes

40
Q

Which x-linked recessive disorder manifests as severe muscle wasting and loss of control of limbs and spine?

A

Duchenne disease

41
Q

What are patches of cells with altered genotypes that diverge from the initial fertilized cell?

A

Genetic mosaics

42
Q

What is the probability that a gene is expressed?

A

Gene penetrance

43
Q

What is a high penetrance disorder that involves a tumour of the eye?

A

Retinoblastoma

44
Q

What is an imcomplete penetrance disorder that involves defective production of collagen?

A

Osteogenesis imperfecta

45
Q

What is the degree to which trait expression differs between individuals?

A

Expressivity

46
Q

What is the observation that genes will be expressed in an individual differently depending on which parent donated the gene?

A

Genomic imprinting

47
Q

How common are chromosomal abnormalities?

A

1 in 50 conceptions

48
Q

What is the occurence of multiple copies of the entire chromosome set?

A

Polyploidy (includes triploidy and tetraploidy)

49
Q

What is the term for a cell that has the normal amount of chromosomes?

A

Euploid

50
Q

What is the term for when tissues are a mix of triploid and euploid cells?

A

Mixoploidy

51
Q

What is the term for cells that have either too many or too few of a specific chromosome?

A

Aneuploidy

52
Q

What is the term for cells having a set of three of a specific chromosome?

A

Trisomy

53
Q

Which aneuploid condition manifests as feminization of the male?

A

Klinefelter syndrome (XXY)

54
Q

What determines how severe aneuploid conditions are?

A

Whether the abnormal number of chromosomes is in all cells or only in select tissues

55
Q

Which syndrome has a similar incidence to Klinefelter syndrome but in females?

A

Triple X syndrome

56
Q

What aneuploid condition happens only in girls and presents with short stature and absence of normal reproductive development?

A

Turner syndrome (X0)

57
Q

What is another term for Down Sydrome

A

Trisomy 21

58
Q

Which aneuploid conditions involve serious multi-organ system defects, and are also called trisomy 13 and 18

A

Patau syndrome and Edward syndrome

59
Q

What are 4 types of chromosomal errors?

A
  1. Deletion
  2. Duplication
  3. Inversion
  4. Translocation
60
Q

Which chromosomal deletion disorder results in microcephaly, intellectual impairment, hypotonia, cardiac defects, and facial malformation?

A

Cri du chat syndrome