Flashcards in Genetic Diseases Deck (50)
1
Those related to mutations in single genes?
mendelian disorders
2
These disorders arise from structural or numerical alterations in chromosomes?
chromosomal disorders
3
These disorders arise from genetic and environmental factors?
polygenic disorders
4
Transmitted from parents through genes?
hereditary
5
Present at birth?
congenital
6
both genes expressed?
codominant
7
multiple forms of alleles?
polymorphism
8
relative tendency to clinically express genotype?
penetrance
9
variations in clinical manifestations?
expressivity
10
many effects from mutation of one gene?
pleiotropy
11
many different genes causing one disease?
heterogeneity
12
examples of autosomal dominant diseases?
Marfan's, neurofibromatosis, familial hypercholesterolemia
13
Marfan's is due to defective extracellular glycoprotein encoded by genes...?
FBN1 or FBN2
14
Which disease? Tall with long extremities/digits, chest deformities, lens abnormalities
Marfan's syndrome
15
Cardiovascular features of Marfans?
mitral valve prolapse, dilation of the ascending aorta (may lead to dissecting aneurysm
16
Which NF? bilateral acoustic neuromas?
type II
17
Which NF? increased risk of developing malignant peripheral nerve sheath tumor
type I
18
Which disease? multiple neurofibromas, cafe-au-lait pigmentation, mental retardation, Lisch nodules
NF1
19
cystic fibrosis: recessive or dominant?
recessive
20
which disease: defective ion transport leading to abnormally viscous secretions that obstruct organ passages?
cystic fibrosis
21
which disease: hypertonic sweat, viscid secretions in the lungs-pulmonary infections, increased pancreatic mucin precipitation-pancreatic insufficiency?
cystic fibrosis
22
Management for which disease: potent antimicrobial therapy, pancreatic enzyme replacement, bilateral lung transplant?
cystic fibrosis
23
phenylketonuria: dominant or recessive?
recessive
24
phenylketonuria is characterized by lack of which enzyme?
phenylalanine hydroxylase (PAH)
25
Which disease: severe mental retardation at 6 months, seizures, decreased pigmentation of hair/skin, mousy odor
phenylketonuria
26
management of phenylketonuria?
dietary restriction of Phe
27
examples of x-linked disorders?
hemophilia, bruton's agammaglobulinemia
28
what hypothesis explains partial expression of x-linked disorders in females?
Lyon hypothesis (barr bodies)
29
2n-1?
monosomy
30
2n+1?
trisomy
31
2 or more cell populations with different chromosomal complements due to nondisjunction in mitosis?
mosaicism
32
trisomy 21 with most caused by meiotic nondisjunction?
Down syndrome
33
which disorder: epicanthic folds, flat facial profile, mental retardation?
down syndrome
34
which disorder: cardiac malformations, infections, increased risk of developing leukemia?
down syndrome
35
male hypogonadism with at least 2 X ---most 47, XXY
klinefelter syndrome
36
which disorder: hypogonadism, long legs/arms, reduced facial/body/pubic hair, gynecomastia, testicular atrophy
klinefelter
37
oral manifestation of klinefelter?
taurodontism
38
hypogonadism in females, most 45 X
turner syndrome
39
most common cause of familial mental retardation?
fragile X
40
which disorder: triple repeat mutation, loss of straining or constriction in long arm of x chromosome?
fragile X
41
which disorder: mental retardation, long face w/ large mandible, everted ears, large testicles?
fragile X
42
are mitochondrial dna diseases maternally or paternally inherited?
maternally
43
an example of mitochondrial dna disease?
leber hereditary optic neuropathy
44
type of diseases arising from the inactivation of maternal or paternal genes during gametogenesis?
genomic imprinting
45
examples of genomic imprinting?
prader-willi syndrome and angelman syndrome
46
deletion in maternal chromosome?
angelman
47
deletion in paternal chromosome?
prader-willi
48
which disorder: obesity, mental retardation, short stature, hypotonia, small hands and feet, hypogonadism?
prader-willi
49
happy puppet syndrome?
angelman
50