genetic diseases

Question 1

achondroplasia

Answer 1

most common form of genetic dwarfism: growth plates affected. failure of normal epiphyseal cartilage formation. Rad: bullet vertebra, trident hand

Question 2

alkaptonuria

Answer 2

accumulation of homogentisic acid, blue-black deposits in cartilage, ear, nose and cheeks. Causes ochronosis (calcification of discs in spine). urine turns black. can get increase of tyrosine.

Question 3

charcot marie tooth

Answer 3

hereditary progressive peroneal muscle atrophy. affects tib anterior

Question 4

Down’s

Answer 4

Trisomy 21. Transposition with chromosome 14.

Question 5

Edward’s

Answer 5

Trisomy 18. Retardation

Question 6

Huntington’s Chorea

Answer 6

Hereditary onset age 30-50. Basal ganglion affected: atrophy of caudate. On chromosome #4. Decrease in GABA. dementia and death

Question 7

Marfan’s

Answer 7

arachnodactyly (spider like fingers), subluxation or dislocation of the lens of the eye, dissecting aortic aneurysms, Tall stature.

Question 8

osteogenesis imperfecta

Answer 8

defect in type I collagen. blue sclera and brittle bones

Question 9

Phenylketonuria

Answer 9

cant convert phenylalanine to tyrosine due to phenylalanine hydroxylase. Retardation can be controlled by diet if caught early. (phenylalanin free diet for life)

Question 10

sickle cell anemia

Answer 10

half moon shaped RBC, H shaped vertebra homozygous sickle cell allele

Question 11

Von Gierke’s

Answer 11

Lacks enzyme (G6P) in liver. Excess glycogen stored in liver, can’t break down. Glycogen storage disease.

Question 12

Cri du Chat

Answer 12

CHS #5 aberration. (cats cry). Characteristic cry of newborn. disappears usually by age 1-2

Question 13

Gaucher’s

Answer 13

lipodystrophy. Excess glucocerebrosides in brain, liver, and spleen

Question 14

krabbe’s

Answer 14

lipodystrophy. Excess galactocerbrosides in white matter

Question 15

Niemann pick’s

Answer 15

lipodystrophy. Increased sphingomyeline. A sphingomyelinase deficiency

Question 16

Tay Sach’s

Answer 16

Lipodystrophy. Increased gangliosides in brain. Glycosphingolipid. Hexosaminidase A deficiency. cherry red spots on the macula. infant death. m/c ashkenasi jews

Question 17

Duchene’s muscular dystrophy

Answer 17

muscular dystrophy. Boys 3-7. Pseudohypertrophy of calves. muscle replaced by fat. Recessive X-linked. increased CPK. gower’s maneuver. waddling gait. proximal muscles affected.

Question 18

fascioscapulohumeral dystrophy

Answer 18

autosomal dominant form of muscular dystrophy in adults. affects face, scapula, upper arms

Question 19

Limbgirdle dystrophy

Answer 19

autosomal class of muscular dystrophy. effects hips and shoulders. Teens

Question 20

myotonic dystrophy

Answer 20

cant relax muscle

Question 21

Fragile X

Answer 21

m/c form mild mental retardation caused by fragile site at XQ27

Question 22

Kleinfelter’s

Answer 22

47XXY karyotype, tall male, low IQ, testicular atrophy, gynecomastia, sterile

Question 23

Turner’s

Answer 23

45X0 karyotype, female, short, webbed neck, amenorrhea, lacks female secondary characteristics