Genetic Disorders

Question 1

CAG

Answer 1

Huntingtons disease

Question 2

CTG

Answer 2

Myotonic dystrophy

Question 3

CGG

Answer 3

Fragile X syndrome

Question 4

GAA

Answer 4

Friedreich’s syndrome

Question 5

Bith male and female affected. Presents after puberty

Answer 5

Autosomal dominant

Question 6

Sturctural genes

Answer 6

Autosomal dominant

Question 7

Enzyme deficiencies

Answer 7

Autosomal recessive disorders

Question 8

Male does not transmit. All daughters are carriers

Answer 8

X-linked recessive disorders

Question 9

Female to Half her sons and half her daughters.

Male parent to all his daughters but none yo his sons

Answer 9

x-linked dominant disorders

Question 10

Vit d resistant

Alport syndrome

Answer 10

x-linked dominant disorders

Question 11

Transmitted only through mothers

Answer 11

Mitochondrial inheritance

Question 12

MC feature of mitochondrial inheritance

Answer 12

Mitochondrial myopathy

Question 13

Defect in fibrillin-1

Ectopia lentis

Tall, Long arms

Answer 13

Marfan syndrome

Question 14

Deficit in type 3 collagen

Answer 14

Ehlers-danlos syndrome

Question 15

Differentiate marfan’s from ehlers-danlos

Answer 15

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

Question 16

Hexosaminidase a subunit defiency

Answer 16

Tay-sachs disease

Question 17

Predominant CNS and retinal invovlement. Cherry red spot in macula

Answer 17

Tay sachs disease

Question 18

Splenomegaly and hepatomegaly. Cherry red spot in macula

Answer 18

Nieman-pick disease

Question 19

Differentiate tay sachs from nieaman-pick

Answer 19

Nieman pick has splenomegaly

It sucks to be tay sachs there is no splenomegaly

Question 20

MC lysosomal storage disorder

Answer 20

Gaucher disease

Question 21

Stop codons

Answer 21

Uag, uga, uaa

Question 22

Exceptionally high prevalence of genetic disease

Answer 22

Ashkenazi jews

Question 23

First human inborn error of metabolism

Answer 23

Alkaptonuria

Question 24

Blue black pigment in the ears, nose, and cheeks

Answer 24

Ochronosis

Question 25

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

Answer 25

Lyon hypothesis

Question 26

Most common chromosomal disorder

Answer 26

Down syndrome

Question 27

Utz in down syndrome

Answer 27

Increased nuchal translucency

Question 28

Diwn syndrome reult on quadruple screen

Answer 28

Increase bHCG, inhibin A; decrease AFP, estriol

Question 29

Trisomy 18 Rocket bottom feet Ventricular septal defect

Answer 29

Edward syndrome

Question 30

Trisomy 13 Cleft lip and palate Polydactily Rocker bottom feet VSD

Answer 30

Patau syndrome

Question 31

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

Answer 31

Di george syndrome

Question 32

Male hypogonadism Testicular atrophy Eunuchoid body shape

Answer 32

Klinefelter symdrome

Question 33

Dygenesis of seminiferous tubules- Abnormal leydig function-

Answer 33

Decrease inhibin> increase FHS | Decrease testosterone>increase LH, estrogen

Question 34

No barr body. Short stature. COarctation of the aorta

Answer 34

Turner syndrome

Question 35

MC cause of primary amenorrhea

Answer 35

Turner syndrome

Question 36

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

Answer 36

Williams syndrome

Question 37

Female pseudo hermaphrodite

Answer 37

21-hydroxylase deficiency

Question 38

46xx

Answer 38

True hermaphrodite

Question 39

Large mandible, large ears,jaws,testis

Answer 39

Fragile c syndrome

Question 40

Microdeleteion of paternal chromosome 15

Answer 40

Prader-willi syndrome

Question 41

Microdeletion of maternal chromosome 15

Answer 41

Angelman syndrome

Question 42

Affected heterozygous female to half her sons and half her daughters

Answer 42

X-linked dominant disorders

Question 43

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

Answer 43

X-linked recessive disorders

Question 44

25% of offspring from 2 carrier parents are affected

Answer 44

Autosomal recessive disorders

Question 45

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

Answer 45

Autosomal dominant