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Genetic Diseases III Flashcards

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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
What is Robertsonian translocation?
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
26
What are chromosomal pericentric and paracentric inversions?
Where part of a chromosome is flipped within itself (pericentric) When two parts of a chromosome are invertedaround the centromere
27
What are isochromes?
Splitting of a chromosome in the wrong direction at the centromere
28
Trisomy 18 = ?
Edward's syndrome
29
What are the signs of Edward's syndrome?
MR Prominent occiput Micrognathia
30
What are the heart defects in Edward's syndrome?
ASDs
31
What is the classic renal malfomation in Edward's sydrome?
Horseshoe kidney
32
What is the foot characteristic of Edward syndrome?
Rocker bottom feet
33
What is the finger characteristics of edwards syndrome?
Syndactyly
34
What is the hip characteristics of Edward's syndrome?
Abducted hips
35
What are the head defects of Edward's syndrome?
MR Prominent occiput Micrognathia
36
What is the finger characteristics of edwards syndrome?
Syndactyly
37
Trisomy 13 = ?
Patau sydrome
38
What is the finger characteristics of Patau syndrome?
Polydactyly
39
What is the abdominal characteristics of Patau syndrome?
Umbilical hernia
40
What are the head characteristics of Patau syndrome? (4)
Cleft lip/palate Microphthalmia Microcephaly MR
41
45X = ?
Turner's syndrome
42
47 XXY = ?
Klinefelter's syndrome
43
What is the sex in Turner's syndrome?
Female
44
What is the cause of monosomy?
Sperm does not deliver the chromosome it was supposed to
45
What percent of fetuses with turner's syndrome are miscarried?
99%
46
What fraction of pts with Turner's syndrome have 45X?
1/2 (others are mosaics and others)
47
What are the physical findings of Turner's syndrome?
Webbed neck Puffy hands and feet Low set ears
48
What are the heart defects found in Turner's syndrome?
Bicuspid valve disorders | Correction of the aorta
49
What forms the webbed neck found in Turner's syndrome?
Cystic hygroma (Failure of lymphatics to form and drain properly)
50
What are the chest characteristics of Turner's syndrome?
Broad based nipples | Broad chest
51
What are the hand characteristics of Turner's syndrome?
Short 4th metacarpal
52
What are the skin findings of Turner's syndrome?
Pigmented nevi
53
What are the ovarian findings of Turner's syndrome?
Streaked ovary
54
When in life are Turner's syndrome pts found to have the disease?
Puberty d/t failure to grow
55
What is the most common cause of primary amenorrhea?
Turner's syndrome
56
What are the physical findings of Klinefelter's syndrome? (4)
Poor beard growth Small genitalia Gynecomastia Mild IQ loss
57
What CA are Klinefelter syndrome pts predisposed to? Why?
Breast CA d/t hyperestrogenism
58
What are the histological findings in testicles of pts with Klinfelter's syndrome?
Hylaine deposits in the seminal vesicles
59
Methylated genes are expressed or not?
Not
60
Acetylated gene are expressed or not?
Are
61
True or false: genes inherited from mom/dad are inherited with a preset methylation
True
62
What is the chromosomal change involved in Angelman syndrome?
Maternal chr 15 partial del results in no AS gene
63
What is the chromosomal change involved in Prader-Willi syndrome?
Paternal chr 15 partial del results in no PWS gene
64
What is the normal methylation pattern of the AS gene on the maternal chromosome 15? Father?
``` Father = off Mother = on ```
65
What is the normal methylation pattern of the PWS gene on the maternal chromosome 15? Father?
``` Father = on Mother = off ```
66
Paternal deletion of chromosome 15 = ?
PWS
67
Maternal deletion of chromosome 15 = ?
Angelmann syndrome
68
Maternal deletion of chromosome 15 = ?
Angelman syndrome
69
What are the symptoms of PWS? (3)
Overeating MR Small genitals and hands
70
What are the symptoms of Angelman syndrome?
Severe MR Odd laughing Spasticity Ataxia

Pathology (32 decks)

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