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69 Cards in this Set

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90% of PKD cases are due to a mutation in what? what chromosome is it on?
APKD1 on chromosome 16
this autosomal dominant disorder is associated with polycystic liver disease, berry aneurysms, mitral valve prolapse
adult polycystic kidney disease
the juvenile form of PKD is inherited in what manner?
autosomal recessive
what is another name for familial hypercholesterolemia?
hyperlipidemia type IIA
heterozygotes (1:500) with familial hypercholesterolemia have approx. what cholesterol level?
300
homozygotes with familial hypercholesterolemia have approximately what cholesterol?
700
what is the defect in familial hypercholesterolemia?
defective or absent LDL receptor
marfan's results from a defect in what gene?
fibrillin - leads to CT disorders
what are the cardiac findings in marfan's?
cystic medial necrosis of aorta -> aortic incompetence and dissecting aortic anuerysms; floppy mitral valve
cafe-au-lait spots, neural tumors, lisch nodules, skeletal disorders (e.g. scoliosis), pheo, and increased tumor susceptibility are associated with what autosomal dominant disease?
neurofibromatosis type I (von Recklinghausen's disease)
on what chromosome is the defect in neurofibromatosis type I
long arm of chromosome 17 - 17 letters in van Recklinghausen
where is the gene responsible for neurofibromatosis type II?
NF2 gene on chromosome 22 (type 2 - 22)
what are the characteristics of neurofibromatosis type II?
bilateral acoustic neuroma, optic pathway gliomas, juvenile cataracts
what is the inheritance pattern of tuberous sclerosis?
autosomal dominant
what are the skin findings associated with tuberous sclerosis?
facial lesions - adenoma sebaceum, hypopigmented 'ash leaf' spots
cortical and retinal hamartomas, seizures, MR, renal cysts, and cardiac rhabdomyomas are associated with what AD disease?
tuberous sclerosis
what is the genetic deletion associated with von Hippel-Lindau disease?
deletion of VHL gene (tumor suppressor) on chromosome 3 - 3 words in VHL
hemangioblastomas of retina/cerebellum/medulla are associated with what AD disorder?
von Hippel-Lindau
about half of all patients with VHL develop what?
multiple bilateral renal cell carcinomas and other tumors
what is the genetic defect in Huntington's?
expansion of CAG repeats on chromosome 4 (CAG - Caudate loses ACh and GABA; hunting 4 food)
what are symptoms common in Huntington's?
depression, progressive dementia, choreiform movements, caudate atrophy, and decreased levels of GABA and ACh in the brain
on what chromosome is the deletion located in familial adenomatous polyposis?
chromosome 5 - 5 letters in polyp
in what autosomal dominant disorder do adenomatous polyps in the colon develop after puberty?
familial adenomatous polyposis
what is increased in hereditary spherocytosis?
MCHC
in what fashion is spherocytosis inherited?
autosomal dominant
what is the defect in achondroplasia?
cell-signaling defect of FGF receptor 3 - dwarfism - short limbs but head and trunk are normal size (autosomal dominant)
how is cystic fibrosis inherited and where is the gene defect?
autosomal recessive; defect in CFTR gene on chromosome 7
what finding in sweat is diagnostic for CF?
increased concentration of Cl- ions
what drug is given to patients with CF to loosen mucous plugs?
n-acetylcysteine
how do you diagnose muscular dystrophies?
increased CPK and muscle biopsy
how is Duchenne's inherited? what kind of mutation occurs? what does it lead to?
X-linked; frame-shift mutation - deletion of dystrophin gene - accelerated muscle breakdown
where does muscle weakness begin in Duchenne's?
pelvic girdle muscles and progresses superiorly
why does pseudohypertrophy of calf muscles occur in Duchenne's? what CV abnormality can occur?
fibrofatty replacement of muscle; cardiac myopathy
what is the genetic defect in Fragile X?
X-linked defect affecting the methylation and expression of the FMR1 gene - triplet repeat disorder (CGG)n
what syndrome is associated with macro-orchidism, long face with large jaw, large everted ears, and autism?
Fragile X
name 4 trinucleotide repeat expansion diseases
Huntington's, myotonic dystrophy, Friedrich's ataxia, fragile X (try hunting for my fried eggs)
what is the most common cardiac malformation in Down syndrome?
septum primum-type ASD due to endocardial cushion defects
MR, flat facial profile, prominent epicanthal folds, simian crease, duodenal atresia, and congenital heart disease are associated with what syndrome?
Down syndrome
people with Down syndrome are at increased risk for developing what leukemia?
ALL
95% of cases of Down syndrome are due to what?
meiotic nondisjunction of homologous chromosomes associated with advanced maternal age (from 1:1500 women under 20 to 1:25 in women over 45)
what percent of cases of Down syndrome are due to robertsonian translocation, and what percent are due to Down mosaicism (no maternal association)
4%; 1%
severe MR, rocker bottom feet, low set ears, micrognathia (small jaw), congenital heart disease, clenched hands, prominent occiput are associated with what syndrome?
Edward's - trisomy 18
severe MR, microphthalmia, microcephaly, cleft lip/palate, abnonrmal forebrain structures, polydactyly, congenital heart disease are found in what syndrome?
Patau's syndrome - trisomy 13
46, XX or XY, 5p-
cri du chat - deletion of short arm of chromosome 5 (cri du has 5 letters)
microcephaly, severe MR, high pitched crying, epicanthal folds, and cardiac abnormalities are found in what syndrome?
cri du chat
variable presentation as DiGeorge syndrome or velocardiofacial syndrome is associated with what chromosomal abnormality?
microdeletion at chromosome 22q11
developmental retardation, microcephaly, facial abnormalities, limb dislocation, and heart and lung fistulas are associated with what syndrome?
fetal alcohol syndrome
what is the number one cause of congenital malformations in the U.S.?
fetal alcohol syndrome
defects seen in fetal alcohol syndrome may occur as a result of what?
inhibition of cell migration
where is the break point in Fragile X?
q27.3 on X chromosome
the test for this condition involves culturing lymphocytes in a folate-deficient medium or with chemical agents such as methotrexate that tend to break chromosomes?
fragile X
the onset of preeclampsia before week 20 is suggestive of what?
hyatidaform mole
this chromosomal defect is the most common of those causing spontaneous abortions
trisomy 16
what 4 trisomies can be seen in live births?
8, 13, 18, 21
what is the only lipid storage disease that is X-linked?
Fabry's disease
uniparental disomy for chromosome 15 can cause what syndrome?
angelman
what is type I familial dyslipidemia?
hyperchylomicronemia
what is increased in type I/hyperchylomicronemia?
blood TG, cholesterol levels
what is the deficiency in type I/hyperchylomicronemia?
lipoprotein lipase deficiency or altered apo C-II
what is type IIb familial dyslipidemia?
combined hyperlipidemia
what is incresed in combined hyperlipidemia?
LDL, VLDL
what is the defect in combined hyyperlipidemia?
hepatic overproduction of VLDL
what is type III familial dyslipidemia?
dysbetalipoproteinemia
what is increased in dysbetalipoproteinemia? what is elevated in blood?
ILDL, VLDL
TG, cholesterol
what is the pathophysiology of type III/dysbetalipoproteinemia?
altered apo E
what is increased in type IV/hypertriglyceridemia? what is elevated in blood?
VLDL; TG
what is the pathophysiology of hypertriglyceridemia?
hepatic overproduction of VLDL
what is increased in type V/mixed hypertriglyceridemia? what is elevated in blood?
VLDL, chylomicrons
TG, cholesterol
what is the pathophysiology of type V/mixed hypertriglyceridemia?
increased production/decreased clearance of VLDl and chylomicrons