Cytogenetics

Front 1

Where are the HLA markers found (chromosome and arm)?
What is there order on the chromosome p-->q

Back 1

Chromosome 6p
A Curious Bisexual 3-way Does Rightly Qualify as Porn
Class I (A, C, B), Class III, class II (DR, DQ, DP)

Front 2

What is HLA B-27 associated with?

Back 2

Ankylosing spondylitis
Postgonococcal arthritis
Acute anterior uveitis

Front 3

What is HLA DR-3 associated with?

Back 3

Autoimmune hepatitis
Sjogren syndrome
DM type 1

Front 4

What is HLA DR-4 associated with?

Back 4

Rheumatoid arthritis
DM type 1

Front 5

What HLA markers are assocated with DM type 1?

Back 5

HLA DR-3 --RR 5
HLA DR-4 --RR 6
DR-3 and DR-4 -- RR 15

Front 6

What is HLA B47 associated with?

Back 6

21-hydroxylase deficiency

Front 7

What is used to halt cells in metaphase for cytogenetic analysis?

Back 7

Colchicine

Front 8

What is the most frequent trisomy at conception?

Back 8

Trisom 16

Front 9

A complete mole has how many chromosomes?

Back 9

46, however they are all paternally derived

Front 10

What chromosomes can be involved in Robertsonian translocations?

Back 10

13, 14, 15, 21, 22 These are the acrocentric chromosomes.

Front 11

Baby born with overlapping fingers and low-set ears, what is it like to be?

Back 11

Trisomy 18 (Edward syndrome)

Front 12

Baby born with cleft-lip, other midline defects, and mental retardation. What does it likely have?

Back 12

Trisomy 13 (Patau syndrome)

Front 13

Baby born with mental retardation and polydactyly, what does it likely have?

Back 13

Trisomy 13 (Patau syndrome)

Front 14

Turner syndrome results in spontaneous abortion 99% of the time. Which parent does the chromosome usually come from whether viable or not?

Back 14

Paternal (because the X and Y don't pair well)

Front 15

cat cry child and preauricular tags. Name the disease.

Back 15

Cri-du-chat, del 5p

Front 16

Prader-Willi syndrome is caused by a uniparental disomy of what gene (chromosome) and from what parent?

Back 16

A gene on chromosome 15. The child has 2 maternal copies and no paternal copies. Note: the syndrome is more commonly caused by a del of the paternal 15.

Front 17

Angelman syndrome is caused by a uniparental disomy of what gene (chromosome) and from which parent?

Back 17

The UPD is a double copy of the paternal gene on 15. Only 3% of angelman cases are uniparental disomy (UPD).

Front 18

What is the most common cause of Prader-Willi syndromes?

Back 18

Prader-Willi- del 15 of paternal gene and silence (imprinting /methylation) of the maternal.
Note- uniparental disomy (2 maternal 15's)--> 15% of cases

Front 19

What is the most common cause of Angelman syndrome?

Back 19

Del 15 of the maternal gene along with silence (imprinting /methylation) of the pateral 15. Note- uniparental disomy (2 parental 15's) only accounts for 3% of cases

Front 20

Low IQ, large ears. Name the disese?

Back 20

Fragile X syndrome

Front 21

In fragile X syndrome, what is the trinucleotide repeat sequence on chromosome X?

Back 21

CGG (200+)

-also, prominent forehead and jaw and large testes

Front 22

Classic Ehlers-Danlos effects what specific protein?
Heritability?

Back 22

Collagen types 1 and 5

Autosomal Dominant
-point mutation leading to instability of collagen despite on good copy

Front 23

What is the heritability of Huntington disease?

Back 23

Autosomal Dominant

Trinucleotide repeat

Front 24

How does Huntington disease cause disease?

Back 24

The trinucleotide repeat causes the protein to become insoluble thus building up in neurons and causing cell death

Front 25

What is the heritability of achondroplasia?

Back 25

The majority of times, it is a new mutation.
Most common disease of new mutations

Front 26

What isoform of Alpha-1 antitrypsin is disease forming?

Back 26

The Z isoform

Front 27

Velocardiofacial syndrome is a spectrum of what disorder and is caused by what cytogenetic abnormality?

Back 27

DiGeorge syndrome
del 22q

Front 28

What disease is most strongly associated with tetralogy of Fallot?

Back 28

del 22q (diGeorge syndrome)

Front 29

What genetic disease is caused by a mutation of the fibrillin 1 gene?

Back 29

Marfan syndrome

Front 30

In addition to a defect in the fibrillin 1 gene, what protein is increased in Marfan syndrome?

Back 30

TGF-b - this cytokine regulates connective tissue growth. Further, a defect in TGF-b gives rise to Marfan syndrome 2.

Front 31

Name the disease:
Bilateral dislocation of the ocular lens

Back 31

Marfan

also, aortic dissection

Front 32

Name the disease association:
Phenylalanine hydroxylase
Hexosaminidase
Adenosine deaminase

Back 32

Phenylketonuria
Tay-Sachs
Severe combined immunodeficiency

Front 33

What HFE gene mutation is most common in hemochromatosis?

Back 33

C282Y

Front 34

What is the functional defect in patients with cystic fibrosis?

Back 34

Defective chloride transport

Front 35

What is the most common mutation seen in 66% of people with cystic fibrosis?

Back 35

Delta F508

Front 36

Cytogenetic abnormality seen in Alveolar rhabdomyosarcoma?

Back 36

t(2;13)

Front 37

Isochromosome 17q neoplasm?

Isochromosome 7?

Back 37

Medulloblastoma

Hepatosplenic T-cell lymphoma

Front 38

Cytogenetic abnormality of Wilm's tumor?

Back 38

del 11

Front 39

Cytogenetic abnormality of Neuroblastoma?

Back 39

del 1

Front 40

Cytogenetic abnormality seen in papillary RCC?

Back 40

+7, +17, Y-

Front 41

Name 3 solid tumors with t(11;22)

Back 41

Ewing's
PNET
Small cell osteosarcoma

Front 42

Cytogenetic abnormality in clear cell RCC?

Back 42

3p- (VHL gene)

Front 43

FISH probe can be useful for detecting low-grade papillary urethelial carcinoma, what abnormality is quite specific for this (vs. high grade)?

Back 43

del 9p21

Front 44

What cytogenetic abnormality confers a better prognosis in patients with oligodendroglioma?

Back 44

del 1p/19q

Front 45

What genetic polymophism confers the most significance for Plavix metabolism?
Warfarin?

Back 45

Cytochrome p450 2C19

Warfarin- 2C9