Genetics

Question 1

Waardenburg Syndrome

Answer 1

Autosomal dominant

White forelock of hair, ocular albinism, heterochromia

Question 2

Apert Syndrome

Answer 2

Autosomal dominant

Early suture closure, choanal atresia, syndactyly

Question 3

Nail Patella Syndrome

Answer 3

Autosomal dominant

Abnormal nails, especially thumb nails

Question 4

Noonan Syndrome

Answer 4

Autosomal dominant
LOOKS LIKE TURNER
Pulmonic stenosis, pectus, webbed neck, HOCM
Look for a normal karyotype

Question 5

Achondroplasia

Answer 5

Autosomal dominant

Die from compression of cervicomedullary junction, normal IQ

Question 6

Peutz Jeghers

Answer 6

Autosomal dominant

Hyperpigmentation macules on lips and oral mucosa, hamartomatous polyps

Question 7

Gardner Syndrome

Answer 7

Autosomal dominant

Subtype of FAP, may have extra teeth, other tumors

Question 8

Retinoblastoma

Answer 8

Autosomal dominant/sporadic

Look for eye problems + chromosome 13, osteosarcomas

Question 9

Retinoblastoma

Answer 9

Autosomal dominant/sporadic

Eye problems + chromosome 13, osteosarcoma

Question 10

HOCM

Answer 10

Autosomal dominant

Question 11

Acute Intermittent Porphyria

Answer 11

Autosomal dominant
Abd pain, confusion, weakness
May be infected with Hep C as well

Question 12

Retinitis Pigmentosa

Answer 12

Autosomal dominant

Retinal atrophy that leads to blindness

Question 13

Romano-Ward Syndrome

Answer 13

Autosomal dominant

Hereditary long QT

Question 14

Tuberous sclerosis and neurofibromatosis

Answer 14

Autosomal dominant

Question 15

Phenylketonuria

Answer 15

Autosomal recessive

Question 16

Alpha-1 Antitrypsin

Answer 16

Autosomal recessive

Question 17

Tay-Sachs

Answer 17

Autosomal recessive

Question 18

Hurlers Syndrome

Answer 18

Autosomal recessive

Question 19

Ataxia telangiectasia

Answer 19

Autosomal recessive

Question 20

Sickle Cell and Thalassemia

Answer 20

Autosomal recessive

Question 21

Wilson’s Disease

Answer 21

Autosomal recessive

Question 22

Alpers Syndrome

Answer 22

Autosomal recessive
Progressive neurological disease with ataxia, cognitive defects, seizures
Die by 10 years

Question 23

Cystic fibrosis

Answer 23

Autosomal recessive

Question 24

Kartagener syndrome

Answer 24

Autosomal recessive

Immobile sperm, respiratory problems

Question 25

Galactosemia

Answer 25

Autosomal recessive

Question 26

Johanson Blizzard Syndrome

Answer 26

Autosomal recessive

Pancreatic insufficiency, hypoplasia of nostrils

Question 27

Familial Hypophosphatemic Rickets

Answer 27

X linked dominant

Question 28

Familial Hypophosphatemic Rickets

Answer 28

X linked dominant

Question 29

Aicardi Syndrome

Answer 29

X linked dominant

Missing corpus callosum, infantile seizures

Question 30

Aicardi Syndrome

Answer 30

X linked dominant

Missing corpus callosum, infantile seizures

Question 31

Alport Syndrome

Answer 31

X linked dominant

Renal disease + sensorineural loss

Question 32

Fragile X Syndrome

Answer 32

X linked dominant

Intellectual disability, macro orchidism, long face

Question 33

Chronic granulomatous disease

Answer 33

X linked recessive
May be diagnosed with serratia infection
No effect to cell lines
Hard to fight off catalase positive organisms

Question 34

Duchenne muscular dystrophy

Answer 34

X linked recessive
Always have elevated CK levels
Wheelchair by 7-8, unable to walk by 13
Die due to respiratory involvement

Question 35

G6PD

Answer 35

X linked recessive
Jaundice within first 24 HOL, hemolysis
Heinz bodies

Question 36

Hemophilia A and B

Answer 36

X linked recessive
Factor VIII and IX
PTT elevated

Question 37

Hunter Syndrome

Answer 37

X linked recessive

Question 38

Nephrogenic diabetes insipidus

Answer 38

X linked recessive

Fox A1 transcription factor deficiency

Question 39

Ornithine Transcarbamylase

Answer 39

X linked recessive

Question 40

Ornithine transcarbamylase

Answer 40

X linked recessive

Question 41

Androgen insensitivity syndrome

Answer 41

X linked recessive
Testicular feminization due to androgen receptor deficiency
XY genotype

Question 42

Wiskott Aldrich Syndrome

Answer 42

X linked recessive

Small platelets, thrombocytopenia, eczema, frequent infections

Question 43

PHACES Syndrome

Answer 43

Posterior fossa malformation
Hemangioma (on face)
Arterial cerebral anomaly (strokes)
Cardiac anomalies
Eye anomalies
Sternal defect