Path Exam 2 - Genetics / Continental Disorders

Front 1

teratogens

Back 1

chemical, physical, and biological agents that cause developmental anomalies

Front 2

thalidomide

Back 2

sedative for pregnant mothers, caused skeletal deformities: phocomelia (short arms) and amelia (missing arms)

Front 3

fetal alcohol syndrome characteristics

Back 3

1. growth retardation
2. CNS abnormalities
3. characterist facial dysmorphology

Front 4

TORCH (stands for)

Back 4

Toxoplasm
Others
Rubella
Cytomegalovirus
Herpes simplex

Front 5

TORCH clinical findings

Back 5

premature birth, intrauterine growth retardation, encephalitis, microcephaly, psychomotor retardation, inner ear damage, microophthalmia, pigmented retinas, cataracts, glaucoma, chorioretinitis, cardiac anomolies

Front 6

Mendelian disorders

Back 6

disorders resulting from a mutation of a single gene

autosomal recessive, autosomal dominant, sex-linked dominant, and sex-linked recessive

Front 7

teratogens

Back 7

chemical, physical, and biological agents that cause developmental anomalies

Front 8

x-linked traits

Back 8

not transmitted from father to son, most x-linked traits are recessive

Front 9

cystic fibrosis pathogenesis

Back 9

defective chloride channel protein (CFTR) gene on Chromosome 7, abnormally thick mucous membranes

Front 10

thalidomide

Back 10

sedative for pregnant mothers, caused skeletal deformities: phocomelia (short arms) and amelia (missing arms)

Front 11

fetal alcohol syndrome characteristics

Back 11

1. growth retardation
2. CNS abnormalities
3. characterist facial dysmorphology

Front 12

cystic fibrosis characteristics

Back 12

1. chronic pulmonary disease
2. deficient exocrine pancreatic function
3. inspissated mucous in several organs

Front 13

TORCH (stands for)

Back 13

Toxoplasm
Others
Rubella
Cytomegalovirus
Herpes simplex

Front 14

cystic fibrosis clinical findings

Back 14

respiratory tract: lung disease causes most morbidity/mortality in CF
pancreas: 85% of patients form chronic pancreatitis leading to fat and protein malabsorption and growth retardation (also smelly poop)
liver: mucous blocks flow of bile
reproductive: 97-98% of males are sterile
GI: small bowel obstruction disease in newborns, Meconium Ileus

Front 15

TORCH clinical findings

Back 15

premature birth, intrauterine growth retardation, encephalitis, microcephaly, psychomotor retardation, inner ear damage, microophthalmia, pigmented retinas, cataracts, glaucoma, chorioretinitis, cardiac anomolies

Front 16

Mendelian disorders

Back 16

disorders resulting from a mutation of a single gene

autosomal recessive, autosomal dominant, sex-linked dominant, and sex-linked recessive

Front 17

x-linked traits

Back 17

not transmitted from father to son, most x-linked traits are recessive

Front 18

cystic fibrosis pathogenesis

Back 18

defective chloride channel protein (CFTR) gene on Chromosome 7, abnormally thick mucous membranes

Front 19

cystic fibrosis characteristics

Back 19

1. chronic pulmonary disease
2. deficient exocrine pancreatic function
3. inspissated mucous in several organs

Front 20

cystic fibrosis clinical findings

Back 20

respiratory tract: lung disease causes most morbidity/mortality in CF
pancreas: 85% of patients form chronic pancreatitis leading to fat and protein malabsorption and growth retardation (also smelly poop)
liver: mucous blocks flow of bile
reproductive: 97-98% of males are sterile
GI: small bowel obstruction disease in newborns, Meconium Ileus

Front 21

Phenylketonuria (PKU)

Back 21

autosomal recessive deficiency of the hepatic enzyme Phenylalanine Hydroxylase (PAH)

Front 22

PKU pathogenesis

Back 22

phenylalanine is an essential amino acid, hydrolyzed in liver to tyrosine by PAH
deficiency of PAH causes ↑phenylalanine in blood, causing neurological damage

Front 23

PKU clinical findings

Back 23

severe mental retardation by 6 months
lack of tyrosine: ↓melanin
↑phenylacetic acid: musty odor in sweat/urine

treat with dietary restrictions

Front 24

familial hypercholesterolemia

Back 24

autsomal dominant chromosome 19 mutation in LDL receptor gene, ↑↑serum cholesterol

Front 25

marfan syndrome

Back 25

autosomal dominant disorder of connective tissue, mutation in gene from Fibrillin-1 (FBN1) on chromosome 15

Front 26

marfan syndrome pathogenesis

Back 26

fibrillin acts as scaffolds for Elastin deposition during development, causes lack of elastin

Front 27

marfan syndrome clinical findings

Back 27

archanodactyly, long skulls, disorders of the ribs, dislocated lens, hyperexensibility of the joints

cardiovascular: defect in the aorta causes dissecting aortic aneurism (leading cause of death), acute ischemic heart disease

Front 28

neurofibromatosis type 1 (NFM1): von Recklinghausen disease

Back 28

autosomal dominant mutation in NF1 gene on chromosome 17

NF1 is classic tumor suppressing gene

Front 29

NFM1 clincal findings

Back 29

1. neurofibromas
2. dark pigmented spots of skin (cafe au lait spots)
3. pigment lesions of the iris
4. freckles in the groin or axilla
5. gliomas of the optic nerve
6. skeletal abnormalities

Front 30

NFM2

Back 30

bilateral tumors of the eighth cranial nerve aka bilateral acoustic neuromas

Front 31

cytogenetics

Back 31

study of chromosomes and their abnormalities

Front 32

Down syndrome

Back 32

Trisomy 21

Front 33

down syndrome pathology

Back 33

nondisjunction in the first meiotic division accounts for 92-95% of patients (extra chromosome usually comes from mother)

Front 34

down syndrome clinical findings

Back 34

metal retardation that increases with age, alzheimers disease, high risk of leukemia, upward slanting eyes and epicanthal folds, prominent tongue, smaller/shorter bones

Front 35

Klinefelter syndrome

Back 35

47,XXY
extra X chromosomes (80% have XXY) from meiotic disjunction

Front 36

klinefelter syndrome clinical findings

Back 36

testes and penis do not respond to gonadotropin stimulation and remain small, infertility, feminine characteristics (from ↑FSH and ↑LH)

Front 37

Turner syndrome

Back 37

45,X
complete or partial x chromosome monosomy

Front 38

turner syndrome clinical findings

Back 38

female hypogonadism, sexual infantalism with primary amenorrhea (no period) and sterility, 20% may be mentally defective