Diseases

Question 1

Neurofibromatosis 1

Answer 1

Autosomal Dominant, mutation in NFI gene

Question 2

Hemophilia A and B

Answer 2

X-linked recessive, mutations in F8 or F9 genes

Question 3

Cystic Fibrosis

Answer 3

Autosomal Recessive, mutation in CFTR gene

Question 4

Huntington Disease

Answer 4

Autosomal Dominant; mutation in HD gene

Question 5

Achondroplasia

Answer 5

Autosomal Dominant; incomplete dominance; mutation in FGFR3 gene

Question 6

Deafness (Nonsyndromic) (GJB2 mutation)

Answer 6

Autosomal Dominant and Recessive; mutation in GJB2 gene

Question 7

Sex Reversal (SRY mutation/translocation)

Answer 7

Y-chromosome; Point mutations, deletions, or translocation of SRY gene cause sex reversal

Question 8

Osteogenesis imperfecta

Answer 8

Autosomal Dom - Single gene mutation for type I collagen

Haploinsufficiency

Question 9

Down’s Syndrome

Answer 9

Trisomy 21/aneuploidy occurring through nondisjunction/translocation/mosaicism

Question 10

Edwards Syndrome

Answer 10

Trisomy 18/aneuploidy occurring through nondisjunction/translocation/mosaicism

Question 11

Patau Syndrome

Answer 11

Trisomy 13/aneuploidy occurring through nondisjunction/translocation/mosaicism

Question 12

Polyploidy

Answer 12

De novo nondisjunction

Question 13

Cri-du-chat Syndrome

Answer 13

microdeletion 5p deletion of short arm of chromosome 5

Question 14

Angleman Syndrome

Answer 14

Uniparental Disomy/Microdeletion of maternal chromosome 15

Question 15

Prader-Willi Syndrome

Answer 15

Uniparental Disomy/Microdeletion of paternal chromosome 15

Question 16

Turner Syndrome

Answer 16

Monosomy X/Aneuploid/nondisjunction

Question 17

Klinefelter Syndrome

Answer 17

XXY/AneuploidAneuploid/nondisjunction

Question 18

XYY Syndrome

Answer 18

XYY/AneuploidAneuploid/nondisjunction

Question 19

Fragile X Syndrome

Answer 19

X-linked dominant expansion of trinucleotide repeats

Question 20

Xeroderma pigmentosum

Answer 20

Autosomal recessive - mutation in XP for NER

Question 21

Intrauterine Growth Restriction

Answer 21

De novo deformation

Question 22

CHARGE Syndrome

Answer 22

Autosomal dominant - single gene mutation on Chromosome 8

Question 23

Familial hypercholesterolemia

Answer 23

AD, Haploinsufficiency

Question 24

Marfan Syndrome

Answer 24

AD, Haploinsufficiency

Question 25

Chronic myelogenous leukemia

Answer 25

AD, somatic mutation

Question 26

Charcot Marie-Tooth

Answer 26

AD

Question 27

Spinal muscular atrophy (SMA)

Answer 27

AR

Question 28

Holoprosencephaly

Answer 28

AD

Question 29

Rett Syndrome

Answer 29

X-linked Dominant

Question 30

Myoclonic Epilepsy w/ Ragged-Red Fibers

Answer 30

Mitochondrial diease

Question 31

Duchenne Muscular Dystrophy

Answer 31

X-linked mutation in Dystrophin, De novo mutation