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Diseases Flashcards

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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
what are the features
"feminized male" primary hypogonadism male in appearance but have many female features bc of extra X chromosome low ratio of estrogens to testosterone
26
What are the affects of increased gonadotropins in Klinefelter Syndrome?
loss of inhibin B -> increased FSH decreased testosteron -> increased LH
27
delayed puberty reduced facial and body hair female pubic hair pattern infertility and reduced sperm count cryptorchidism (undescended testes) hypospadia (lower urethra) micropenis
Klinefelter Syndrome
28
long legs, arms and eunuchoid body shape could be indicative of
Klinefelter Syndrome
29
quiet unassertive personality and learning disabilities are indicative of ____
Klinefelter Syndrome
30
in what disorder would you see a barr body (inactivated X chromosome) in nucleus in cells?
Klinefelter Syndrome
31
what is the cause of Turner Syndrome?
45, X0 fertilization of an egg with a sperm lacking X chromosome
32
how is mosaicism seen in Turner Syndrome?
abnormal: 45, X normal: 46, XX mitotic nondisjunction
33
female with short stature broad chest (shield chest) widely spaced nipples webbed neck swollen hands and feet at birth
Turner Syndrome
34
in what disorder is a female with primary hypogonadism a hallmark?
Turner Syndrome loss of ovarian function, "streak ovaries"
35
what are the levels of ovarian function in females with Turner Syndrome?
decreased inhibin B decreased Estrogens increased LH/FSH
36
Most women with Turner syndrome are _____
infertile
37
cardiovascular manifestations in Turner Syndrome?
bicuspid aortic valve coarctation of aorta high blood pressure
38
renal manifestations of Turner syndrome?
horseshoe kidney
39
what are the four Trinucleotide Repeat Disorders?
Fragile X Syndrome Friedreich's ataxia Huntington's Disease Myotonic Dystrophy Tri Hunting for My Fried Eggs
40
what occurs in Trinucleotide Repeat Disorders?
repeat trinucleotide units ex) CAGCAGCAG likely due to slipped DNA mispairing
41
what does it mean to have "Unstable repeat Expansions"
number of repeats may increase in offspring
42
what disorders exhibit anticipation?
Trinucleotide Repeat Disorders - disease severity worsens in subsequent generations
43
what is the cause of Fragile X Syndrome?
X-linked dominant DNA methylation of FMR1 gene so it becomes silenced
44
in what sex is fragile X syndrome more common?
male
45
intellectual disability anxiety/ADHD autism long, narrow face large ears and jaw macroorchidism (large testicles)
Fragile X Syndrome
46
what is the cause of Friedrich's Ataxia?
autosomal recessive mutation of frataxin gene (mitochondrial protein) leads to mitochondrial dysfunction
47
loss of balance weakness hypertrophic cardiomyopathy kyphoscoliosis foot abnormalities
Friedrich's Ataxia
48
what is the cause of Huntington's Disease?
autosomal dominant movement (CNS) disorder mutation in HTT gene -> increased CAG repeats which codes from glutamine
49
onset of symptoms in 30s-40s degeneration of basal ganglia dementia
Huntington's Disease
50
what is the cause of Myotonic Dystrophy?
autosomal dominant CTG expansion -> loss of myotonic dystrophy protein kinase
51
progressive muscle wasting develops in 20s or 30s myotonia (prolonged muscle contractions) long narrow face hollowed cheeks
Myotonic Dystrophy
52
what are the cardiac symptoms of Myotonic Dystrophy?
arrhythmias atrial flutter and afib
53
what Trinucleotide Repeat Disorder has cataracts at young age?
Myotonic Dystrophy
54
In which imprinting syndromes is the paternal copy abnormal?
Prader-Willi
55
In which imprinting syndromes is the maternal copy abnormal?
Angelman
56
"syndromic" caused obesity hypotonia (difficulty holding head up) hyperphagia and obesity intellectual disability (mild) hypoginadism
Prader-Willi Syndrome
57
frequent laughter / smiling seizures ataxia intellectual disability (severe)
Angelman Syndrome
58
what causes Cystic Fibrosis?
autosomal recessive (both parents must be carriers abnormal CFTR gene mutation in delta F508 (most common)
59
thick mucous in lungs pseudomonas malabsorption of fats loss of fat soluble vitamins
Cystic Fibrosis
60
Steatorrhea - frequent stools - foul-smelling stools - oily or greasy - floating stools can indicate
Cystic FIbrosis
61
why are men with CF often infertile?
absence of vas deferens (issue with sperm transport)
62
newborns with CF have increased levels of ____
IRT

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