Genetic Pearls

Question 1

Name 4 autosomal recessive conditions

Answer 1

DD, Friedereich’s ataxia, OI (type II and III), McKusic metaphyseal dysplasia

Question 2

Name 2 X-linked recessive conditions

Answer 2

• SED tarda
• CMT (20%) connexin gene

Question 3

Name 12 autosomal dominant conditions

Answer 3

• Achondroplasa/pseudoachon
• CMT (80%), SED congenita
• Jansen and Schmid’s metaphyseal chondrodysp
• MED I/II
• OI (I and IV) and Kniest
• Apert and cleidocranial

Question 4

Myxoid chondrosarcoma translocation

Answer 4

(9:22)

EWS-CHN fusion protein

Question 5

Ewing’s translocation

Answer 5

(11:22)

EWS-FLI fusion protein

Question 6

Clear cell csarcoma translocation

Answer 6

(12:22)

EWS-ATF1 fusion protein

nests on histo

Question 7

Myxoid liposarcoma translocation

Answer 7

(12:16)

TLS-CHOP

Question 8

Synovial sarcoma translocation

Answer 8

(X:18)

SYT-SSX1,2, or 4

Question 9

Rhabdomyosarcoma translocation

Answer 9

(2:13)

Pax3-FKHR

Question 10

Name 2 tumor suppressor genes

Answer 10

Rb1 and p53

Question 11

colorectal carcinoma antigen

Answer 11

CEA

Question 12

pancreatic cancer

Answer 12

CA 19-9

Question 13

ovarian cancer

Answer 13

CA 125

Question 14

breast cancer antigen

Answer 14

CA 15-3

Question 15

hepatocellular carcinomas

Answer 15

AFP (seen in many)

Question 16

Achondroplasia

Answer 16

FGFR3

Question 17

Apert Syndrome

Answer 17

FGFR2

Question 18

Autosomal dominant CMT (80%)

Answer 18

PMP22

Question 19

Pseudoachondroplasia defect

Answer 19

COMP

Question 20

SED congenita AND tarda defect

Answer 20

COL2A1 (type II collagen)

Question 21

Kniest’s Syndrome

Answer 21

Type II collagen

Question 22

MED - Type I defect

Answer 22

COMP

Question 23

MED - Type II defect

Answer 23

Type IX collage (Col9A2) (affects type II collagen as link protein)

Question 24

Jansen’s metaphyseal chondrodysplasia defect

Answer 24

PTHrP

Question 25

Schmid's metaphyseal chondrodysplasia defect

Answer 25

Type X collagen (Col10A1)

Question 26

Cleidocranial dysplasia gene

Answer 26

Runx2 (CBFA-1)

Question 27

Osteogenesis Imperfecta

Answer 27

COL1A1/2 (Type I collagen)

Question 28

diastrophic dysplaisa gene

Answer 28

sulfate transporter gene (DTD)

Question 29

Friedreich's Ataxia defect

Answer 29

frataxin

Question 30

McKusick metaphyseal dysplasia defect

Answer 30

RMRP gene

Question 31

What is the most common genetic disorder caused by a new mutation of a single gene?

Answer 31

NF type 1

Question 32

X-linked recessive CMT (20%)

Answer 32

connexin