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Diseases Flashcards

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Organic Chemistry 101 flashcards
1
Q

What are the three trisomy disorders?

A

Down Syndrome (21)
Edward Syndrome (18)
Patau Syndrome (13)

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2
Q

What disorder has:
“flat” facial profile
flat nasal bridge
low-set small ears
short neck
brachycephaly (posterior flat neck)

A

Down Syndrome (trisomy 21)

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3
Q

what disorder presents with prominent epicanthal folds,
brushfield spots and
upslanting palpebral fissures?

A

Down Syndrome (trisomy 21)

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4
Q

what disorder presents with short, broad hands
transverse palmar crease and
“sandal gap”

A

Down Syndrome (trisomy 21)

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5
Q

congenital heart disease occurs in 50% of patients with ____

A

Down Syndrome (trisomy 21)

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6
Q

what causes trisomy?

A

meiotic nondisjuction
two chromosomes from one patent (usually from mother) and one from other
usually during meiosis I

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7
Q

what could be the reason for Down Syndrome appearing to run in a family?

A

Robertsonian Translocation

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8
Q

what are the levels in the first trimester maternal serum to determine for Down Syndrome?

A

low PAPP-A
high b-hCG

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9
Q

what are the levels in maternal serum during second trimester to determine for Down Syndrome?

A

reduced AFP

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10
Q

What details are associated with Trisomy Disorders?

A

advanced maternal age and meiotic nondisjunction

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11
Q

What is the female to male ratio of Edward Syndrome?

A

3:1

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12
Q

what are the features of Edward Syndrome (trisomy 18)?

A

low birth weight, abnormally shaped skull, prominent occiput, low set ears, small jaw and mouth, clenched fists with overlapping fingers, “rockerbottom” feet

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13
Q

in what disorder do 75% of babies have GI defects?

A

Edward Syndrome (trisomy 18)

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14
Q

what are the first trimester maternal serum levels of Edward Syndrome?

A

low PAPP-A
low B-hCG

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15
Q

what are the other levels in the quad screen for Edward Syndrome?

A

low AFP
low Inhibin-A

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16
Q

severe structural malformations

A

Patau Syndrome (trisomy 13)

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17
Q

what disorder has the following features:
microphthalmia/anophthalmia
cleft lip and palate
post-axial polydactyly (extra finger)

A

Patau Syndrome (trisomy 13)

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18
Q

what disorder has holoprosencephaly (“alobar” brain)

A

Patau Syndrome (trisomy 13)

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19
Q

what are the first trimester maternal serum levels for Patau Syndrome?

A

low PAPP-A
low B-hCG

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20
Q

What are the two sex chromosome aneuploidy disorders?

A

Klinefelter and Turner Syndrome

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21
Q

what is the sex chromosome aneuploidy of Klinefelter?

A

Male with extra X (XXY)

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22
Q

what is the sex chromosome aneuploidy of Turner Syndrome?

A

female with missing X (X0)

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23
Q

how is there mosaicism in mosaicism?

A

some cells in the body have normal 46 XY, while others are abnormal with 47 XXY
mitosis errors (nondisjunction) after conception

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24
Q

What is the cause of 80% of Klinefelter Syndrome?

A

47 XXY
have 47 chromosomes, extra X
occurs from meiotic nondisjuction of either patent

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25
Q

what are the features

A

“feminized male”
primary hypogonadism
male in appearance but have many female features bc of extra X chromosome
low ratio of estrogens to testosterone

26
Q

What are the affects of increased gonadotropins in Klinefelter Syndrome?

A

loss of inhibin B -> increased FSH
decreased testosteron -> increased LH

27
Q

delayed puberty
reduced facial and body hair
female pubic hair pattern
infertility and reduced sperm count
cryptorchidism (undescended testes)
hypospadia (lower urethra)
micropenis

A

Klinefelter Syndrome

28
Q

long legs, arms and eunuchoid body shape could be indicative of

A

Klinefelter Syndrome

29
Q

quiet unassertive personality and learning disabilities are indicative of ____

A

Klinefelter Syndrome

30
Q

in what disorder would you see a barr body (inactivated X chromosome) in nucleus in cells?

A

Klinefelter Syndrome

31
Q

what is the cause of Turner Syndrome?

A

45, X0
fertilization of an egg with a sperm lacking X chromosome

32
Q

how is mosaicism seen in Turner Syndrome?

A

abnormal: 45, X
normal: 46, XX
mitotic nondisjunction

33
Q

female with short stature
broad chest (shield chest)
widely spaced nipples
webbed neck
swollen hands and feet at birth

A

Turner Syndrome

34
Q

in what disorder is a female with primary hypogonadism a hallmark?

A

Turner Syndrome
loss of ovarian function, “streak ovaries”

35
Q

what are the levels of ovarian function in females with Turner Syndrome?

A

decreased inhibin B
decreased Estrogens
increased LH/FSH

36
Q

Most women with Turner syndrome are _____

A

infertile

37
Q

cardiovascular manifestations in Turner Syndrome?

A

bicuspid aortic valve
coarctation of aorta
high blood pressure

38
Q

renal manifestations of Turner syndrome?

A

horseshoe kidney

39
Q

what are the four Trinucleotide Repeat Disorders?

A

Fragile X Syndrome
Friedreich’s ataxia
Huntington’s Disease
Myotonic Dystrophy

Tri Hunting for My Fried Eggs

40
Q

what occurs in Trinucleotide Repeat Disorders?

A

repeat trinucleotide units
ex) CAGCAGCAG
likely due to slipped DNA mispairing

41
Q

what does it mean to have “Unstable repeat Expansions”

A

number of repeats may increase in offspring

42
Q

what disorders exhibit anticipation?

A

Trinucleotide Repeat Disorders
- disease severity worsens in subsequent generations

43
Q

what is the cause of Fragile X Syndrome?

A

X-linked dominant
DNA methylation of FMR1 gene so it becomes silenced

44
Q

in what sex is fragile X syndrome more common?

A

male

45
Q

intellectual disability
anxiety/ADHD
autism
long, narrow face
large ears and jaw
macroorchidism (large testicles)

A

Fragile X Syndrome

46
Q

what is the cause of Friedrich’s Ataxia?

A

autosomal recessive
mutation of frataxin gene (mitochondrial protein) leads to mitochondrial dysfunction

47
Q

loss of balance
weakness
hypertrophic cardiomyopathy
kyphoscoliosis
foot abnormalities

A

Friedrich’s Ataxia

48
Q

what is the cause of Huntington’s Disease?

A

autosomal dominant
movement (CNS) disorder
mutation in HTT gene -> increased CAG repeats which codes from glutamine

49
Q

onset of symptoms in 30s-40s
degeneration of basal ganglia
dementia

A

Huntington’s Disease

50
Q

what is the cause of Myotonic Dystrophy?

A

autosomal dominant
CTG expansion -> loss of myotonic dystrophy protein kinase

51
Q

progressive muscle wasting
develops in 20s or 30s
myotonia (prolonged muscle contractions)
long narrow face
hollowed cheeks

A

Myotonic Dystrophy

52
Q

what are the cardiac symptoms of Myotonic Dystrophy?

A

arrhythmias
atrial flutter and afib

53
Q

what Trinucleotide Repeat Disorder has cataracts at young age?

A

Myotonic Dystrophy

54
Q

In which imprinting syndromes is the paternal copy abnormal?

A

Prader-Willi

55
Q

In which imprinting syndromes is the maternal copy abnormal?

A

Angelman

56
Q

“syndromic” caused obesity
hypotonia (difficulty holding head up)
hyperphagia and obesity
intellectual disability (mild)
hypoginadism

A

Prader-Willi Syndrome

57
Q

frequent laughter / smiling
seizures
ataxia
intellectual disability (severe)

A

Angelman Syndrome

58
Q

what causes Cystic Fibrosis?

A

autosomal recessive (both parents must be carriers
abnormal CFTR gene
mutation in delta F508 (most common)

59
Q

thick mucous in lungs
pseudomonas
malabsorption of fats
loss of fat soluble vitamins

A

Cystic Fibrosis

60
Q

Steatorrhea
- frequent stools
- foul-smelling stools
- oily or greasy
- floating stools
can indicate

A

Cystic FIbrosis

61
Q

why are men with CF often infertile?

A

absence of vas deferens (issue with sperm transport)

62
Q

newborns with CF have increased levels of ____

A

IRT

Molecules to Cells (4 decks)

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