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