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Principles of Physiopathology > Genetic and Congenital Defects > Flashcards

Genetic and Congenital Defects Flashcards

Chromosomal abnormalities and inborn errors in metabolism

1
Q

What is Trisomy 21?

A

Down Syndrome

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2
Q

What is a simian crease? What is it associated with?

A

Longitudinal crease on hands associated with down syndrome

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3
Q

What is an epicanthic fold? What is it associated with?

A

Inner eyelid fused to nose bridge associated with down syndrome

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4
Q

Protruding tongue, simian crease, and epicanthic fold are all physical characteristics of…

A

Down Syndrome

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5
Q

What is tetrology of Fallot? What is it associated with?

A

Congenital heart anomaly associated with down syndrome

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6
Q

What is trisomy 18?

A

Edwards Syndrome

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7
Q

What are the physical characteristics of Edwards Syndrome?

A
  • Severe cardiac malformations
  • “Rocker-bottom” feet
  • Clenched hands
  • Low-set ears
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8
Q

What is the prognosis or life expectancy for Edwards Syndrome?

A

Majority die in utero or within 1 year

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9
Q

What is trisomy 13?

A

Patau Syndrome

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10
Q

Which defect is characterized by a cleft lip and palate, sometimes into the nasal cavity?

A

Patau Syndrome

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11
Q

Besides a cleft lip or palate, how does Patau Syndrome affect the body?

A
  • Severe cognitive and growth delay
  • Nervous system and cardiac malformations
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12
Q

What is the prognosis of Patau Syndrome?

A

Not compatible with long life

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13
Q

Describe the chromosomal defect in Cri-du-chat syndrome

A

5p- syndrome: deletion of portion of the p-arm on chromosome 5

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14
Q

Infants with cri-du-chat syndrome are best known for their…

A

high-pitched cry that sounds like a cat

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15
Q

Which disorder causes widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face?

A

Cri-du-chat syndrome

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16
Q

An infant has intellectual disability, delayed development, microcephaly, low birth weight, and weak muscle tone (hypotonia).
What is the likely congenital defect?

A

Cri-du-chat syndrome

17
Q

How might cri-du-chat syndrome affect organs?

A

Several organ defects possible

18
Q

What are the chromosomes of someone with Kleinfelter Syndrome?

A

47, XXY (biologically male)

19
Q

What are the symptoms of Kleinfelter Syndrome?

A
  • Male hypogonadism and infertility (due to lack of androgens)
  • Tall, thin, relatively long legs
  • High-pitched voice
  • Gynecomastia (breast development)
20
Q

What are the chromosomes of someone with Turner Syndrome?

A

45, X or X, O (biologically female)

21
Q

What are the physical characteristics of Turner Syndrome?

A

Short stature with webbed neck (due to extra soft tissue)

22
Q

What are the effects of Turner Syndrome on the reproductive system?

A

Females will have primary amenorrhea (no menses, no ovulation) and sterility

23
Q

Lesch-Nyhan syndrome is an X-linked deficiency of the enzyme…

A

hypoxanthine-guanine phosphoribosyltransferase (HGPRT)

24
Q

Lesch-Nyhan syndrome causes accumulation of…

A

uric acid in body fluids
(associated with gout and kidney dysfunction as well as brain damage)

25
Q

What are neurological signs of Lesch-Nyhan syndrome?

A

Poor muscle control and cognitive disability in first year of life

26
Q

What is characteristic of the second year of life with Lesch-Nyhan syndrome?

A

Self-mutilating behaviors, ie lip and finger biting

27
Q

Lesch-Nyhan syndrome damages what part of the brain? What does this cause?

A

Basal ganglia damage leads to writhing movements

28
Q

With Lesch-Nyhan syndrome, poor utilization of vitamin B12 may lead to…

A

megaloblastic anemia

29
Q

Phenylketonuria (PKU) is an autosomal recessive deficiency of the hepatic enzyme…

A

phenylalanine hydroxylase

30
Q

PKU means high levels of phenylalanine which leads to…

A

progressive mental deterioration in the first few years of life

31
Q

If an affected infant appears normal at birth, but cognitive disability is evident within a few months, what defect is most likely?

A

Phenylketonuria (PKU)

32
Q

The inability to convert phenylalanine to tyrosine leads to…
So, infants with PKU tend to…

A

leads to reduced melanin synthesis
so, infants with PKU tend to have fair skin, blonde hair, and blue eyes

33
Q

Which defect can be characterized by a mousy or musty odor? Why?

A

PKU, due to production of phenylacetic acid

34
Q

What is one treatment for PKU?

A

Phenylalanine-restricted diet

35
Q

Alkaptonuria/Ochronosis is a defect in the enzyme… which participates in…

A

the enzyme homogentisate 1,2-dioxygenase (HGD), which participates in tyrosine degredation

36
Q

If urine demonstrates oxygenation of homogentisic acid, which defect is most likely?

A

Alkaptonuria/Ochronosis

37
Q

What are some symptoms of Alkaptonuria/Ochronosis?

A
  • Degenerative arthropathy (bilateral painful joints)
  • Cola colored urine (rapid oxidation)
  • Spots on skin

Principles of Physiopathology (36 decks)

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