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Pathology > Genetic Diseases III > Flashcards

Genetic Diseases III Flashcards

1
Q

Is Huntington’s passed on in an AD or AR way?

A

AD

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2
Q

What is inheritance pattern of Fragile X syndrome? Penetrance?

A

XLD with reduced penetrance

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3
Q

What is the protein that is affected in fragile x syndrome? What is the trinucleotide repeat?

A

FMR-1 protein

CGG

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4
Q

What is the protein that is affected in Huntington’s disease? What is the trinucleotide repeat?

A

Huntingtin

CAG

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5
Q

How many triplet repeats can one have with Huntington’s diseases before symptoms set it?

A

35

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6
Q

Where is the triplet repeat found in Huntingtons (intron extron, UTR)?

A

Exon

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7
Q

Where is the triplet repeat found in fragile X (intron extron, UTR)?

A

UTR

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8
Q

What is anticipation?

A

Diseases that get worse or expressed earlier in successive generations

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9
Q

What is the phenomenon of a slowly expanding trinucleotide repeat number from a normal size to a disease-causing mutation?

A

Amplification

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10
Q

True or false: triplet repeats always or almost always increase in successive generations

A

False–mostly stay the same

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11
Q

Genes with repeat sizes that are larger than normal, but still small enough to not cause clinical problems are called what?

A

Intermediate alleles

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12
Q

What is the leading cause in INHERITED mental impairment and the leading known signlepgene cause of ASD?

A

Fragile X syndrome

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13
Q

What fraction of children diagnosed with fragile X sydrome have autism?

A

1/3

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14
Q

Who are affected worse in fragile X syndrome, males or females?

A

Males

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15
Q

What is the affected range of fragile X syndrome?

A

> 200

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16
Q

True or false: an allele in the premutation range (for fragile X syndrome) always changes is size

A

True

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17
Q

True or false: expansion from pre to full mutation of fragile x sydrome only occurs through males

A

False–only through females

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18
Q

What are the physical signs of fragile x syndrome? (3)

A

Protruding jaw, elongated ears, big testicles

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19
Q

What chromosome is the huntingtin gene on?

A

4

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20
Q

People who have between 26-36 CAG repeats have what predisposition?

A

No disease, but the repeats are likely to expand in offspring

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21
Q

What are the symptoms of huntington’s?

A

Jerky movements (chorea)
Depression/irritability
Behavior problems

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22
Q

What is the region of the brain that is affected in Huntingtons?

A

Caudate nucleus

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23
Q

Greater than what number of CAG repeats causes juvenile onset of huntingtons?

A

60

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24
Q

What is a balanced translocation?

A

Where equal parts of a chromosome are exchanged

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25
Q

What is Robertsonian translocation?

A

q and p parts of a chromosome are translocated, resulting in a really small chromosome, and a large chromosome. Often the small one is lost

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26
Q

What are chromosomal pericentric and paracentric inversions?

A

Where part of a chromosome is flipped within itself (pericentric)

When two parts of a chromosome are invertedaround the centromere

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27
Q

What are isochromes?

A

Splitting of a chromosome in the wrong direction at the centromere

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28
Q

Trisomy 18 = ?

A

Edward’s syndrome

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29
Q

What are the signs of Edward’s syndrome?

A

MR
Prominent occiput
Micrognathia

30
Q

What are the heart defects in Edward’s syndrome?

A

ASDs

31
Q

What is the classic renal malfomation in Edward’s sydrome?

A

Horseshoe kidney

32
Q

What is the foot characteristic of Edward syndrome?

A

Rocker bottom feet

33
Q

What is the finger characteristics of edwards syndrome?

A

Syndactyly

34
Q

What is the hip characteristics of Edward’s syndrome?

A

Abducted hips

35
Q

What are the head defects of Edward’s syndrome?

A

MR
Prominent occiput
Micrognathia

36
Q

What is the finger characteristics of edwards syndrome?

A

Syndactyly

37
Q

Trisomy 13 = ?

A

Patau sydrome

38
Q

What is the finger characteristics of Patau syndrome?

A

Polydactyly

39
Q

What is the abdominal characteristics of Patau syndrome?

A

Umbilical hernia

40
Q

What are the head characteristics of Patau syndrome? (4)

A

Cleft lip/palate
Microphthalmia
Microcephaly
MR

41
Q

45X = ?

A

Turner’s syndrome

42
Q

47 XXY = ?

A

Klinefelter’s syndrome

43
Q

What is the sex in Turner’s syndrome?

A

Female

44
Q

What is the cause of monosomy?

A

Sperm does not deliver the chromosome it was supposed to

45
Q

What percent of fetuses with turner’s syndrome are miscarried?

A

99%

46
Q

What fraction of pts with Turner’s syndrome have 45X?

A

1/2 (others are mosaics and others)

47
Q

What are the physical findings of Turner’s syndrome?

A

Webbed neck
Puffy hands and feet
Low set ears

48
Q

What are the heart defects found in Turner’s syndrome?

A

Bicuspid valve disorders

Correction of the aorta

49
Q

What forms the webbed neck found in Turner’s syndrome?

A

Cystic hygroma (Failure of lymphatics to form and drain properly)

50
Q

What are the chest characteristics of Turner’s syndrome?

A

Broad based nipples

Broad chest

51
Q

What are the hand characteristics of Turner’s syndrome?

A

Short 4th metacarpal

52
Q

What are the skin findings of Turner’s syndrome?

A

Pigmented nevi

53
Q

What are the ovarian findings of Turner’s syndrome?

A

Streaked ovary

54
Q

When in life are Turner’s syndrome pts found to have the disease?

A

Puberty d/t failure to grow

55
Q

What is the most common cause of primary amenorrhea?

A

Turner’s syndrome

56
Q

What are the physical findings of Klinefelter’s syndrome? (4)

A

Poor beard growth
Small genitalia
Gynecomastia
Mild IQ loss

57
Q

What CA are Klinefelter syndrome pts predisposed to? Why?

A

Breast CA d/t hyperestrogenism

58
Q

What are the histological findings in testicles of pts with Klinfelter’s syndrome?

A

Hylaine deposits in the seminal vesicles

59
Q

Methylated genes are expressed or not?

A

Not

60
Q

Acetylated gene are expressed or not?

A

Are

61
Q

True or false: genes inherited from mom/dad are inherited with a preset methylation

A

True

62
Q

What is the chromosomal change involved in Angelman syndrome?

A

Maternal chr 15 partial del results in no AS gene

63
Q

What is the chromosomal change involved in Prader-Willi syndrome?

A

Paternal chr 15 partial del results in no PWS gene

64
Q

What is the normal methylation pattern of the AS gene on the maternal chromosome 15? Father?

A 
Father = off
Mother = on
65
Q

What is the normal methylation pattern of the PWS gene on the maternal chromosome 15? Father?

A 
Father = on
Mother = off
66
Q

Paternal deletion of chromosome 15 = ?

A

PWS

67
Q

Maternal deletion of chromosome 15 = ?

A

Angelmann syndrome

68
Q

Maternal deletion of chromosome 15 = ?

A

Angelman syndrome

69
Q

What are the symptoms of PWS? (3)

A

Overeating
MR
Small genitals and hands

70
Q

What are the symptoms of Angelman syndrome?

A

Severe MR
Odd laughing
Spasticity
Ataxia

Pathology (32 decks)

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