Genetics

Question 1

Genetics

Autosomal Dominant Diseases

Answer 1

Achondroplasia
ADPKD, FAP

Familial hypercholesterolemia,

Hereditary Spherocytosis
Huntingtons
Marfans

MEN

NF1, NF2

TS

vHl

Question 2

Genetics

Achondroplasia

Answer 2

FGF3 - dwarfism, short limbs, larger head, advanced paternal age

AD

Question 3

Genetics

ADPKD

Answer 3

bilateral massive enlargement of kidneys
Flank pain, HTN, hematuria, progressive RF

PKD on chromosome 16

Polycystic liver disease, berry aneurysm, MVP

Question 4

Genetics

Familal Adenomatous Polyposis

Answer 4

Mut on APC gene (chromosome 5)

Progresses to colon cancer

AD

Question 5

Genetics

Familial hypercholesteroloemia (hld II)

Answer 5

Elevated LDL due to defective/absent LDL receptor

Severe atherosclerotic dz early in life, tendon xanthoma (achilles), early MI

AD

Question 6

Genetics

Hereditary hemorrhagic telangiectasia

Answer 6

AD

Telangiectasia,recurrent epistaxis, skin discolorations, AVMs

Question 7

Genetics

Hereditary Spherocytosis

Answer 7

AD

Spectric or ankyrin defect

Hemolytic anemia, splenectomy is curative

Question 8

Genetics

Marfan’s syndrome

Answer 8

Fibrillin-1 gene mutation

CTD affecting sksleton, heart, and eyes. Tall, pecctus excavatum, hypermobile joints, long tapering fingers, subluxation of lenses

Mitral valve and aortic incompetence

Question 9

Genetics

NF1

Answer 9

AD

Cafe au lait spots, neural tumors, Lisch nodules, optic pathway gliomas, Chromosome 17

Question 10

Genetics

NF2

Answer 10

Bilateral acoustic schwannnomas, juvenile cataracts

Chromosome 22
AD

Question 11

Genetics

tuberous sclerosis

Answer 11

“HAMARTOMAS:”

Hamartomas, Adenoma sebaceum, Mitral regurgitation, Ash-leafspots, Rhabdomyoma (heart), Tuberous sclerosis, autosOmal dOminant, Mental retardation, renal Angiomyolipoma, Seizures

Incomplete penetrance, variable presentation

Question 12

Genetics

Von hippel-lindau disease

Answer 12

deletion of VHL gene (tumor suppressor) on Chr 3
-constitutive expression of HIF (TF) & activation of angiogenic growth factors
autosomal dominant

Sx: hemangioblastomas (retina, cerebellum, medulla), multiple bilateral renal cell carcinomas & other tumors

Question 13

Genetics

Autosomal Recessive Disorders

Answer 13

Albinism
ARPKD

CF

Glycogen storage diseases, mucopolysaccharides

Hemachromatosis
PKU
Sphingolipidoses

Sickle cell anemias, thalassemias

Question 14

Genetics

X linked Recessive disorders

Answer 14

Be Wise, Fool’s GOLD Heeds Silly HOpe

-Brutons agammaglobulinemia, Wiskott Aldrich, Fabrys, G6pD deficiency, Ocular albinism, Lesch Nyhan Syndrome, Duchennes/Beck’s MD, Hunter syndrome, Hemophilia A/B, Ornithine transcarbamoylase deficiciency

Question 15

Genetics

Trinucleotide repeat expansion diseases (x4)

Answer 15

• Huntington’s (CAG)
• Fragile X syndrome (CGG)
• Friedreich’s Ataxia (GAA)
• Myotonic dystrophy (CTG)

Question 16

Genetics

Autosomal Trisomies

Answer 16

• Down Syndrome (Chr 21)
• Edward’s syndrome (Chr 18)

-Patau Syndrome (Chr 13)

Question 17

Genetics

Edward’s Syndrome

Answer 17

Chr18

Severe MR, rocker bottom feet, micrognathia, low set ears, clenched hands,prominent occiput, congenital heart disease, death w/in 1st year

low AFP, bHCG, estriol
normal inhibin A

Question 18

Genetics

Patau’s syndrome

Answer 18

Chr13
Severe MR,rocker bottom feet,micropthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, congentail heart disease, death within 1st year

low bHCG,PAPP-A, increased nucral translucency

Question 19

Genetics

22q11 deletion

Answer 19

CATCH-22, Due to 3rd and 4th branchial pouches

Cleft palate, Abnormal facies, Thymic aplasia –> T cell deficiency, Cardiac defects, Hypocalcemia 2/2 parathyroid aplasia

DiGeorge syndrome - thymic, parathyroid, and cardiac defects
Velocardiofacial syndrome - palate, facial, and cardiac defects