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Mechanisms of Disease > Adkison Quizlet- MOD Concepts and Applications > Flashcards

Adkison Quizlet- MOD Concepts and Applications Flashcards

(62 cards)

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1
Q

ovarian dysgenesis

A

Turner syndrome

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2
Q

Lisch nodules

A

Neurofibromatosis

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3
Q

CGG repeat

A

Fragile X

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4
Q

CAG repeat

A

Huntington disease

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5
Q

Chr 15q11-13 maternal deletion

A

Angelman syndrome

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6
Q

t(8;14)(q24;q32)

A

Burkitt lymphoma - MYC and Ig heavy chains involved

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7
Q

t(9;22)(q34;q11)

A

Chronic myelogenous leukemia - ABL and BCR form new protein kinase

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8
Q

Chromosome 5 deletion

A

Cri-du-chat

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9
Q

Chromosome 22 deletion, athymic

A

DiGeorge syndrome

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10
Q

hyalinized seminiferous tubules

A

Klinefelter syndrome, 47, XXY

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11
Q

cafe-au-lait spots, plexiform neurofibromas

A

Neurofibromatosis 1

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12
Q

cafe-au-lait spots, vestibular schwannomas

A

Neurofibromatosis 2

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13
Q

Male Turners

A

Noonan syndrome, autosomal dominant

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14
Q

SNRPN mutation

A

Prader Willi syndrome

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15
Q

Chromosome 15q11-13 paternal deletion

A

Prader Willi syndrome

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16
Q

Streak ovaries

A

Turner syndrome

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17
Q

Almond shaped eyes

A

Prader Willi syndrome

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18
Q

Ubiquitin protein ligase (UBE3A) mutation

A

Angelman syndrome

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19
Q

Chromosomes based on centromere location

A

metacentric, submetacentric, acrocentric, telecentric (humans do not have the latter)

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20
Q

Chemical used to stimulate cell division

A

phytohemoglutinin

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21
Q

Chemical used to disrupt mitotic spindles

A

colchicine

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22
Q

Stains AT rich region of chromosomes

A

Giemsa and Q-banding

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23
Q

Chromosome stain requiring UV light

A

Quinacrine (Q-banding

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24
Q

Stains GC regions of chromosomes

A

Reverse (R-banding)

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25
Number of possible alleles at a locus
many
26
Number of alleles at a locus in an individual
2
27
Number of homologs for each chromosome
2
28
Arrangement of chromosomes in a karyotype is based on:
centromere location, size, G-banding pattern
29
Which chromosomes translocate most often
Those in the D/G groups (13, 14, 15, 21, 22)
30
Smallest autosome
Chr 21
31
UPD means
uniparental disomy
32
ter in a genotype means
terminus or end of chromosome
33
t in a genotype means
translocation
34
del means
deletion
35
types of translocations
balanced or unbalanced
36
Polysome means
an aneuploid with or without a chromosome
37
polyploidy means
having one or more extra sets of chromsomes
38
example of polyploidy
hydatidiform mole
39
Number of alleles expressed at a locus
usually 2; a null allele is not expressed
40
formula for Barr bodies
#X chromosomes - 1
41
Region involved in X inactivation
XIC
42
Dosage compensation occurs with what process
lyonization
43
Number of chromosomes with imprintted genes
9
44
Fertilization of an empty egg by 2 sperm produces
Complete mole
45
Fertilization of an egg by 2 sperm yields what genotype
69,XXX or 69,XXY or 69,XYY
46
Associated with grape like clusters of the placenta
complete mole
47
fetus with no fetal parts
complete mole
48
fetus with fetal parts
partial mole
49
common presentation with molar pregnancy
vaginal bleeding during first trimester, nausea and vomiting, fetus smaller than gestation age, excessive enlargement of uterus for gestational age
50
trisomy associated with cleft lip and cleft palate
trisomy 13
51
trisomy associated with clinched fist, rocker bottom feet, micrognathia, low set ears
trisomy 18
52
trisomy associated with simian crease, macroglossia, epicanthal folds, brushfield spots, flat occiput
trisomy 21
53
most common trisomy in placenta of spontaneous abortions
trisomy 16
54
number of gamete combinations from a t(14;21) parent
6
55
Most likely monosomy to be viable
45,X
56
heart defect associated with Turner syndrome
coarctation of the aorta
57
Ovary develop in Turner syndrome is described as
Ovarian dysgenesis
58
Hormonal feature associated with feminization in Klinefelter syndrome
High estrogen:testosterone ratio
59
Skeletal proportion associated with Klinefelter syndrome
lower segment is greater than upper segment
60
Aggressive behavior in Klinefelter variants is associated with
additional Y chromosomes
61
three etiologies of Prader Willi and Angelman syndromes
micodeletion, upd, methylation error
62
GI conditions of concern in Down syndrome infants
duodenal or anal atresia; megacolon

Mechanisms of Disease (12 decks)

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