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Pathology Nakon > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

CAG

A

Huntingtons disease

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2
Q

CTG

A

Myotonic dystrophy

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3
Q

CGG

A

Fragile X syndrome

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4
Q

GAA

A

Friedreich’s syndrome

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5
Q

Bith male and female affected. Presents after puberty

A

Autosomal dominant

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6
Q

Sturctural genes

A

Autosomal dominant

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7
Q

Enzyme deficiencies

A

Autosomal recessive disorders

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8
Q

Male does not transmit. All daughters are carriers

A

X-linked recessive disorders

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9
Q

Female to Half her sons and half her daughters.

Male parent to all his daughters but none yo his sons

A

x-linked dominant disorders

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10
Q

Vit d resistant

Alport syndrome

A

x-linked dominant disorders

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11
Q

Transmitted only through mothers

A

Mitochondrial inheritance

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12
Q

MC feature of mitochondrial inheritance

A

Mitochondrial myopathy

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13
Q

Defect in fibrillin-1

Ectopia lentis

Tall, Long arms

A

Marfan syndrome

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14
Q

Deficit in type 3 collagen

A

Ehlers-danlos syndrome

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15
Q

Differentiate marfan’s from ehlers-danlos

A

Marfans syndrome has ocular ( ectopia lentis) and cardiovascular (MVP) changes

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16
Q

Hexosaminidase a subunit defiency

A

Tay-sachs disease

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17
Q

Predominant CNS and retinal invovlement. Cherry red spot in macula

A

Tay sachs disease

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18
Q

Splenomegaly and hepatomegaly. Cherry red spot in macula

A

Nieman-pick disease

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19
Q

Differentiate tay sachs from nieaman-pick

A

Nieman pick has splenomegaly

It sucks to be tay sachs there is no splenomegaly

20
Q

MC lysosomal storage disorder

A

Gaucher disease

21
Q

Stop codons

A

Uag, uga, uaa

22
Q

Exceptionally high prevalence of genetic disease

A

Ashkenazi jews

23
Q

First human inborn error of metabolism

A

Alkaptonuria

24
Q

Blue black pigment in the ears, nose, and cheeks

A

Ochronosis

25
Q

One of the two X chromosomes is randomly inactivated (barrbody)

A

Lyon hypothesis

26
Q

Most common chromosomal disorder

A

Down syndrome

27
Q

Utz in down syndrome

A

Increased nuchal translucency

28
Q

Diwn syndrome reult on quadruple screen

A

Increase bHCG, inhibin A; decrease AFP, estriol

29
Q

Trisomy 18

Rocket bottom feet
Ventricular septal defect

A

Edward syndrome

30
Q

Trisomy 13

Cleft lip and palate
Polydactily
Rocker bottom feet
VSD

A

Patau syndrome

31
Q 
Chromosome 22q11.2
Cardiac defect
Abnirmal
Facies
Thymuc aplasia
Cleft palate
Hypocalcemi branchial pouch 3&4
A

Di george syndrome

32
Q

Male hypogonadism
Testicular atrophy
Eunuchoid body shape

A

Klinefelter symdrome

33
Q

Dygenesis of seminiferous tubules-

Abnormal leydig function-

A

Decrease inhibin> increase FHS

Decrease testosterone>increase LH, estrogen

34
Q

No barr body. Short stature. COarctation of the aorta

A

Turner syndrome

35
Q

MC cause of primary amenorrhea

A

Turner syndrome

36
Q

Microdeletion of ling arm chromosome 7
Elfin face
Extreme friendliness with strangers

A

Williams syndrome

37
Q

Female pseudo hermaphrodite

A

21-hydroxylase deficiency

38
Q

46xx

A

True hermaphrodite

39
Q

Large mandible, large ears,jaws,testis

A

Fragile c syndrome

40
Q

Microdeleteion of paternal chromosome 15

A

Prader-willi syndrome

41
Q

Microdeletion of maternal chromosome 15

A

Angelman syndrome

42
Q

Affected heterozygous female to half her sons and half her daughters

A

X-linked dominant disorders

43
Q

Affected male does not transmit the disorder to his sons but all daughters are carriers

A

X-linked recessive disorders

44
Q

25% of offspring from 2 carrier parents are affected

A

Autosomal recessive disorders

45
Q

Both male and female are affected, age at onset is delayed

A

Autosomal dominant

Pathology Nakon (9 decks)

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