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

Adkison Quizlet- MOD Concepts and Applications Flashcards

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
Q

Number of possible alleles at a locus

A

many

26
Q

Number of alleles at a locus in an individual

A

2

27
Q

Number of homologs for each chromosome

A

2

28
Q

Arrangement of chromosomes in a karyotype is based on:

A

centromere location, size, G-banding pattern

29
Q

Which chromosomes translocate most often

A

Those in the D/G groups (13, 14, 15, 21, 22)

30
Q

Smallest autosome

A

Chr 21

31
Q

UPD means

A

uniparental disomy

32
Q

ter in a genotype means

A

terminus or end of chromosome

33
Q

t in a genotype means

A

translocation

34
Q

del means

A

deletion

35
Q

types of translocations

A

balanced or unbalanced

36
Q

Polysome means

A

an aneuploid with or without a chromosome

37
Q

polyploidy means

A

having one or more extra sets of chromsomes

38
Q

example of polyploidy

A

hydatidiform mole

39
Q

Number of alleles expressed at a locus

A

usually 2; a null allele is not expressed

40
Q

formula for Barr bodies

A

X chromosomes - 1

41
Q

Region involved in X inactivation

A

XIC

42
Q

Dosage compensation occurs with what process

A

lyonization

43
Q

Number of chromosomes with imprintted genes

A

9

44
Q

Fertilization of an empty egg by 2 sperm produces

A

Complete mole

45
Q

Fertilization of an egg by 2 sperm yields what genotype

A

69,XXX or 69,XXY or 69,XYY

46
Q

Associated with grape like clusters of the placenta

A

complete mole

47
Q

fetus with no fetal parts

A

complete mole

48
Q

fetus with fetal parts

A

partial mole

49
Q

common presentation with molar pregnancy

A

vaginal bleeding during first trimester, nausea and vomiting, fetus smaller than gestation age, excessive enlargement of uterus for gestational age

50
Q

trisomy associated with cleft lip and cleft palate

A

trisomy 13

51
Q

trisomy associated with clinched fist, rocker bottom feet, micrognathia, low set ears

A

trisomy 18

52
Q

trisomy associated with simian crease, macroglossia, epicanthal folds, brushfield spots, flat occiput

A

trisomy 21

53
Q

most common trisomy in placenta of spontaneous abortions

A

trisomy 16

54
Q

number of gamete combinations from a t(14;21) parent

A

6

55
Q

Most likely monosomy to be viable

A

45,X

56
Q

heart defect associated with Turner syndrome

A

coarctation of the aorta

57
Q

Ovary develop in Turner syndrome is described as

A

Ovarian dysgenesis

58
Q

Hormonal feature associated with feminization in Klinefelter syndrome

A

High estrogen:testosterone ratio

59
Q

Skeletal proportion associated with Klinefelter syndrome

A

lower segment is greater than upper segment

60
Q

Aggressive behavior in Klinefelter variants is associated with

A

additional Y chromosomes

61
Q

three etiologies of Prader Willi and Angelman syndromes

A

micodeletion, upd, methylation error

62
Q

GI conditions of concern in Down syndrome infants

A

duodenal or anal atresia; megacolon

Mechanisms of Disease (12 decks)

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