Chromosome location of diseases

Question 1

Autosomal Dominant

Answer 1

HNPP
Osteogenesis Imperfecta 
Charcot-Marie-Tooth Type 1A 
Huntington’s Disease 
Myotonic Dystrophy 1 
Achondroplasia 
Neurofibromatosis
Marfan Syndrome
Polycystic Kidney Disease

Question 2

Autosomal Recessive

Answer 2

PKU
ATD
Tay-Sachs Disease
Sandhoff Disease
AB-Variant of Tay Sachs
Cystic Fibrosis
Hereditary Hemochromatosis Congenital Adrenal Hyperplasia 5-alpha reductase deficiency
 Leydig cell hypoplasia 
Smith-Lemli-Opitz Syndrome 
Pompe Disease
Sickle Cell

Question 3

X-linked Dominant

Answer 3

Fragile X Syndrome

Rett Syndrome

Question 4

X-linked Recessive

Answer 4

Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Hemophilia A
androgen insensitivity syndrome (testicular feminization)
Fabry Disease
Lesch-Nyhan Syndrome

Question 5

Mitochondrial

Answer 5

Kearns-Sayre Syndrome
MELAS
MERRF
Leber Hereditary Optic Neuropathy

Question 6

Chromosomal Abnormalities

Answer 6

Turner Syndrome 
Klinefelter
XYY Syndrome (Jacob's)
Trisomy 13 
Trisomy 18

Question 7

Autosomal Contiguous Gene Syndromes

Answer 7

Cri-du-Chat
Prader-Willi
Angelman
DiGeorge WAGR

Question 8

Chromosome 9 and 22 Translocation

Answer 8

Chronic Myelogenous Leukemia (CML)

BCR and ABL genes combined

Question 9

Chromsome 15 and 17 translocation

Answer 9

Acute Promyeloid Leukemia

PML/RARA genes combined

Question 10

Chromosome 11

Answer 10

WAGR Syndrome (Deletion 11P13)
Wilms Tumor, Aniridia (eye color-lack), Gonadblastoma, and Retardation

Question 11

Chromosome 22

Answer 11

DiGeorge Syndrome (Deletion 22Q11)

Question 12

Chromosome 15

Answer 12

Angelman Syndrome (Deletion Maternal 15Q11-q133)
Prader-Willi Syndrome (Deletion Paternal 15Q11-Q13)

Marfan Syndrome –Mutation in FBN1 mutations (fibrillin)

Tay Sach’s Disease–>defect in alpha subunit of HEXA

Question 13

Chromosome 5

Answer 13

Cri Du Chat Del(5p15.2)

Question 14

Chromosome 18

Answer 14

Trisomy 18 (Edward’ s Syndrome)

Question 15

Chromosome 13

Answer 15

Trisomy 13 (Patau’s Syndrome)

Retinoblastoma–> RB1 Gene (critical for cellular growth)

Question 16

Chromosome 21

Answer 16

Down’ s Syndrome (Trisomy 21)

Question 17

Sex Chromosome Disorder (47XYY)

Answer 17

Jacob’s syndrome

Question 18

XXY Sex chromsome Disorder

Answer 18

Klinefelter Syndrome

Question 19

Chromosome 17

Answer 19

Neurofibromatosis Type 1 (Codes neurofibroma protein)

Charcot- Marie-Tooth Type 1A (Gain of Function: duplication of of PMP22 gene, 17p11.2)

HNPP (Hereditary Neuropathy with Liability to Pressure Palsies)Deletion of PMP22

Osteogenesis imperfecta (type I) nonsense frameshift in COL1A1

Osteogenesis Imperfect Types II, II, IV ovel Property Mutation: the COL1A2 protein has new property due to new/different folding)

Question 20

Chromosome 4

Answer 20

Achondroplasia Gly380Arg mutation in FGFR3 Gene (fibroblast)

Huntington Disease –> HTT gene with CAG repeats

Question 21

Chromosome 7

Answer 21

Cystic Fibrosis (CFTR gene; CFTR protein needed to regulate components of sweat, digestive juices, and mucus)

Question 22

Chromosome 14

Answer 22

ATD (alpha1- Antitrypsin Deficiency)–Defective alpha1-AT protein (normally protease of elastin)SERPINA1 gene
Z-muation =85% affected
S-mutation= 40% affected

M mutation–> roughly normal

Question 23

45,X

Answer 23

Turner’s syndrome

Question 24

47, XXX

Answer 24

Tripple X syndrome

Question 25

46 XY Underdeveloped Male

Answer 25

5-Alpha Reductase Deficiency

Question 26

46 XY sex reversal

Answer 26

Denys-Drash & Frasier Syndrome

Question 27

Chromosome 9 and 16

Answer 27

Tuberous Sclerosis—>TSC1 and TSC2, which code for the proteins hamartin and tuberin respectively. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation.

Question 28

chromosome 19

Answer 28

Myotonic Dystrophy Type 1 (DMPK gene with CTG repeats)

Question 29

Diseases on the X Chromosome

Answer 29

Hypophosphatemic Rickets (PHEX gene mutation)

Fragile X Syndrome (FMR1 mutation)

Rett Syndrome (MECP2 mutation, the methylation protein

Lesch-Nyhan Syndrome (HPRT1 mutation)

Duchenne Muscular Dystrophy and Becker Muscular Dystrophy (DMD gene)

Fabry Disease

Question 30

Chromosome 12

Answer 30

Phenylketonuria/PKU disease (PAH gene)

Question 31

Hypodiploidy (less than 46 chromosomes)

Answer 31

Acute Lymphomatic Leukemia

ALL