Common Genetic Disorders

Question 1

Nervous System ; Autosomal Dominant

Answer 1

Huntington’s
Neurofibromatosis
Mytonic dystrophy
Tuberous sclerosis

Question 2

Urinary; Autosomal Dominant

Answer 2

Polycystic kidney disease

Question 3

Gastrointestinal ; Autosomal Dominant

Answer 3

Familial polyposis coli

Question 4

Hematopoietic ; Autosomal Dominant

Answer 4

Hereditary spherocytosis

von Willebrand disease

Question 5

Skeletal ; Autosomal Dominant

Answer 5

Marfan
Ehlers-Danlos
Osteogenesis imperfecta
Achondroplasia

Question 6

Metabolic ; Autosomal Dominant

Answer 6

Familial hypercholesterolemia

Acute intermittent porphyria

Question 7

Metabolic ; Autosomal Recessive

Answer 7

Cystic fibrosis
Phenylketonuria
Galactosemia
Homocystinuria
Lysosomal storage disease
a1-Antitrypsin deficiency
Wilson's disease
Hemochromatosis
Glycogen storage disease

Question 8

Hematopoietic ; Autosomal Recessive

Answer 8

Sickle cell anemia

Thalassemias

Question 9

Endocrine ; Autosomal Recessive

Answer 9

Congenital adrenal hyperplasia

Question 10

Skeletal ; Autosomal Recessive

Answer 10

Ehlers-Danlos

Alkaptonuria

Question 11

Nervous ; Autosomal Recessive

Answer 11

Neurogenic muscular atrophies
Friedreich ataxia
Spinal muscular dystrophy

Question 12

Musculoskeletal ; X-Linked Recessive

Answer 12

Duchenne muscular dystrophy

Question 13

Blood ; X-Linked Recessive

Answer 13

Hemophilia A & B
Chronic granulomatous disease
Glucose-6-phosphate dehyrogrenase deficiency

Question 14

Immune ; X-Linked Recessive

Answer 14

Agammaglobulinemia

Wiskott-Aldrich syndrome

Question 15

Metabolic ; X-Linked Recessive

Answer 15

Diabetes insipidus

Lesch-Nyhan

Question 16

Nervous ; X-Linked Recessive

Answer 16

Fragile X

Question 17

Sex linked Dominant

Answer 17

Rickets, Vit D resistant

Question 18

Trinucleotide Repeat Mutations

Answer 18

Fragile X
Huntington
Myotonic dystrophy
Friedrich ataxia
Spinocerebellar ataxia

Question 19

Genomic Imprinting

Answer 19

Chromosome 15 inactivation
Angelman syndrome (maternal)
Prader-Willi syndrome (paternal)

Question 20

Mitochondrial DNA mutations

Answer 20

Leber’s Hereditary Optic Neuropathy (LHON)

Question 21

Gonadal Mosaicism

Answer 21

Down syndrome

Chromosomal Abnormalities

Question 22

Abnormal Ploidy

Answer 22

Down Syndrome (Trisomy 21)
Klinefelter’s Syndrome (47XXY)
Turner’s Syndrome (45X)

Question 23

Abnormal structures

Answer 23

leukemias

lymphomas

Question 24

Abnormal Structure: Translocation; Balanced

Answer 24

Acute myeloid leukemia (Philadelphia chromosome [9&22])