Flashcards in Genetic Diseases Deck (50)
Those related to mutations in single genes?
These disorders arise from structural or numerical alterations in chromosomes?
These disorders arise from genetic and environmental factors?
Transmitted from parents through genes?
Present at birth?
both genes expressed?
multiple forms of alleles?
relative tendency to clinically express genotype?
variations in clinical manifestations?
many effects from mutation of one gene?
many different genes causing one disease?
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
Cardiovascular features of Marfans?
mitral valve prolapse, dilation of the ascending aorta (may lead to dissecting aneurysm
Which NF? bilateral acoustic neuromas?
Which NF? increased risk of developing malignant peripheral nerve sheath tumor
Which disease? multiple neurofibromas, cafe-au-lait pigmentation, mental retardation, Lisch nodules
cystic fibrosis: recessive or dominant?
which disease: defective ion transport leading to abnormally viscous secretions that obstruct organ passages?
which disease: hypertonic sweat, viscid secretions in the lungs-pulmonary infections, increased pancreatic mucin precipitation-pancreatic insufficiency?
Management for which disease: potent antimicrobial therapy, pancreatic enzyme replacement, bilateral lung transplant?
phenylketonuria: dominant or 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
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)
2 or more cell populations with different chromosomal complements due to nondisjunction in mitosis?
trisomy 21 with most caused by meiotic nondisjunction?
which disorder: epicanthic folds, flat facial profile, mental retardation?
which disorder: cardiac malformations, infections, increased risk of developing leukemia?
male hypogonadism with at least 2 X ---most 47, XXY
which disorder: hypogonadism, long legs/arms, reduced facial/body/pubic hair, gynecomastia, testicular atrophy
oral manifestation of klinefelter?
hypogonadism in females, most 45 X
most common cause of familial mental retardation?
which disorder: triple repeat mutation, loss of straining or constriction in long arm of x chromosome?
which disorder: mental retardation, long face w/ large mandible, everted ears, large testicles?
are mitochondrial dna diseases maternally or paternally inherited?
an example of mitochondrial dna disease?
leber hereditary optic neuropathy
type of diseases arising from the inactivation of maternal or paternal genes during gametogenesis?
examples of genomic imprinting?
prader-willi syndrome and angelman syndrome
deletion in maternal chromosome?
deletion in paternal chromosome?
which disorder: obesity, mental retardation, short stature, hypotonia, small hands and feet, hypogonadism?
happy puppet syndrome?