Adkison Quizlet- MOD Concepts and Applications Flashcards Preview

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

Flashcards in Adkison Quizlet- MOD Concepts and Applications Deck (62)
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1

ovarian dysgenesis

Turner syndrome

2

Lisch nodules

Neurofibromatosis

3

CGG repeat

Fragile X

4

CAG repeat

Huntington disease

5

Chr 15q11-13 maternal deletion

Angelman syndrome

6

t(8;14)(q24;q32)

Burkitt lymphoma - MYC and Ig heavy chains involved

7

t(9;22)(q34;q11)

Chronic myelogenous leukemia - ABL and BCR form new protein kinase

8

Chromosome 5 deletion

Cri-du-chat

9

Chromosome 22 deletion, athymic

DiGeorge syndrome

10

hyalinized seminiferous tubules

Klinefelter syndrome, 47, XXY

11

cafe-au-lait spots, plexiform neurofibromas

Neurofibromatosis 1

12

cafe-au-lait spots, vestibular schwannomas

Neurofibromatosis 2

13

Male Turners

Noonan syndrome, autosomal dominant

14

SNRPN mutation

Prader Willi syndrome

15

Chromosome 15q11-13 paternal deletion

Prader Willi syndrome

16

Streak ovaries

Turner syndrome

17

Almond shaped eyes

Prader Willi syndrome

18

Ubiquitin protein ligase (UBE3A) mutation

Angelman syndrome

19

Chromosomes based on centromere location

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

20

Chemical used to stimulate cell division

phytohemoglutinin

21

Chemical used to disrupt mitotic spindles

colchicine

22

Stains AT rich region of chromosomes

Giemsa and Q-banding

23

Chromosome stain requiring UV light

Quinacrine (Q-banding

24

Stains GC regions of chromosomes

Reverse (R-banding)

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