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95 Cards in this Set
- Front
- Back
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1 gene has >1 effect on an individual's phenotype
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pleiotrophy
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cells in the body have different genetic makeup
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mosaicism
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presence of both normal & mutated mitochondrial DNA (mtDNA)→ l/t variable expression in mitochondrial inherited dzs
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heteroplasmy
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offspring gets 2 copies of a chromosome from 1 parent & no copies from the other
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uniparental disomy
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equation for disease prevalence
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p^2 + 2pq + q^2 = 1
2pq = heterozygote prev p^2 & q^2 = homozygotes |
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equation for allele prevalence
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p + q = 1
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prevalence of an XLR dz in males
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q (where q^2 = prev of homozyg recessive)
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prev of XLR dz in females
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q^2 (where q^2 also = prev of homozyg)
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prader-willi has a deletion of the maternal or paternal allele? what chromosome?
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- chromosome 15
- paternal allele deleted |
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angelman's syndrome has a deletion of the maternal or paternal allele? what chromosome?
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- chromosome 15
- maternal allele deleted |
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MR, seizures, ataxia, inappropriate laughter
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angelman's syndrome
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degeneration of retinal ganglion cells & axons→ l/t acute loss of central vision
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Leber's hereditary optic neuropathy
(mitochondrial inheritance) |
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dz a/w ↑ paternal age
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achondroplasia
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inheritance of achondroplasia
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AD FGFR3 gene mutation (fibroblast growth factor receptor 3)
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dz a/w APKD1 gene mutation
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autosomal dom polycystic kidney disease (ADPKD)
(the adult form) |
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bilateral, massive enlargement of kidneys d/t multiple large cysts
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AD-PKD
(adult form) |
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flank pain, hematuria, HTN, progressive renal failure, autosomal dominant
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AD-PKD
(adult form) |
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other dzs/probs a/w AD-PKD
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- polycystic liver dz
- berry aneurysm* - MV prolapse |
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dz a/w deletion of APC gene
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familial adenomatous polyposis
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inheritance of FAP
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AD
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presentation of FAP
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colon covered w/adenomatous polys after puberty
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LDLR gene mutation
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familial hypercholesterolemia
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inheritance of familial hypercholesterolemia
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AD LDLR gene mutation
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inheritance of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
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AD
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inheritance of Hereditary Spherocytosis
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AD
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Inheritance of Huntington's disease
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AD CAG repeat d/o
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inheritance of marfan's
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AD Fibrillin gene mutation
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inheritance of Multiple Endocrine Neoplasias (MEN)
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AD
(2A & 2B a/w "ret" gene) |
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inheritance of Neurofibromatosis type 1 (von Recklinghausen's dz)
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AD (on chrom 17?)
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inheritance of Neurofibromatosis type 2
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AD NF2 gene (chrom 22)
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inheritance of tuberous sclerosis
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AD; incomplete penetrance & variable presentation
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inheritance of von Hippel-Lindau disease
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AD deletion of VHL gene (tumor suppressor)
(chrom 3) |
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telangiectasia, recurrent epistaxis, skin discolorations, AVM's
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Osler-Weber-Rendu syndrome
(aka hereditary hemorrhagic telangiectasia) |
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hemolytic anemia + ↑MCHC
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hereditary spherocytosis
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protein defects in hereditary spherocytosis
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spectrin & ankyrin defect
(↑ viscosity of blood) |
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cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas); may have skeletal d/o's (like scoliosis), optic gliomas, pheochromocytoma & ↑ tumor susceptibility
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NF1 (von recklinghausen's)
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facial lesions (adenoma sebaceum), hypopig "ash leaf spots", cortical/retinal hemorrhages, seizures, MR, renal cysts & angiomyolipomas, cardiac rhabdomyomas*, ↑ incidence astrocytomas
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tuberous sclerosis
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hemangioblastomas of retina/cerebellum/medulla; bilat renal cell CA; other tumors (like pheo's)
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von Hippel-Lindau dz
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albinism inheritance
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AR
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cystic fibrosis inheritance
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AR CFTR gene defect
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inheritance of glycogen storage diseases
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AR
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inheritance of hemochromatosis
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AR
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inheritance of mucopolysaccharidoses (except Hunter's)
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AR
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inheritance of phenylketonuria
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AR
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inheritance of sickle cell anemias
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AR
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inheritance of sphingolipidoses (except Fabry's)
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AR
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inheritance of thalassemias
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AR
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earliest sign of cystic fibrosis
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meconium ileus
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MC lethal genetic dz of caucasians
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cystic fibrosis
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pts w/CF are more susceptible to what bacteria?
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pseudomonas (& s. aureus)
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CFTR gene mutation results in what?
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abnormal protein folding → degrad of channel before reaching cell surface
(cystic fibrosis) |
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CFTR channel does what in lungs, GI tract, and skin?
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lung = secrs Cl-
GI = secrs Cl- skin = reabsorbs Cl- from sweat |
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why are males w/CF infertile?
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b/c of bilateral absence of vas deferens
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what deficiencies do ppl w/CF have?
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fat-soluble vitamin deficiencies (A, D, E, K)
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what is diagnostic for cystic fibrosis
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↑ Cl- ion concentration w/sweat test
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cystic fibrosis tx
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N-acetylcysteine
(to loosen mucous plugs) |
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inheritance of Bruton's agammaglobulinemia
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XLR
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inheritance of Wiskott-Aldrich syndrome
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XLR
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inheritance of Fabry's dz
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XLR
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inheritance of G6PD deficiency
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XLR
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inheritance of ocular albinism
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XLR
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inheritance of Lesch-Nyhan syndrome
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XLR
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inheritance of Duchenne's (& Becker's) muscular dystrophy
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XLR (dystrophin gene)
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inheritance of Hunter's Syndrome
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XLR
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inheritance of Hemophilia A & B
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XLR
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inheritance of Fragile X
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XLR (FMR1 gene→ trinuc repeat CGG)
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deleted dystrophin gene
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duchenne's muscular dystrophy
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muscular dystrophy w/onset before age 5
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duchenne's MD
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mutated dystrophin gene
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Becker'd muscular dystrophy
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muscular dystrophy w/onset in adolescence or early adulthood
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Becker'd MD
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dx muscular dystrophies w/...?
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↑CPK & muscle biopsy
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2nd MCC of genetic MR
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Fragile X
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macro-orchidism, long face w/large jaw, large everted ears, autism, MV prolapse
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Fragile X
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myotonic dystrophy genetics
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CTG trinuc repeat
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friedreich's ataxia genetics
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CAA trinuc repeat
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dz a/w gap btwn 1st 2 toes & duodenal atresia
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down syndrome
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MC congenital heart dz in down syndrome
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ASD
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down syndrome has ↑ risk of
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ALL & Alzheimers
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MC chromosonal d/o
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Down syndrome
(& MCC of congenital MR) |
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results of pregnancy quad screen for Down syndrome
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- ↓ aFP
- ↑ b-hCG - ↓ estriol - ↑ inhibin A |
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U/S shows ___ in Down syndrome
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↑ nuchal translucency
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95% of Down syndrome is d/t
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meiotic nondisjunction (of homologous chromosomes--a/w maternal age)
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2nd MCC of Down syndrome is
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Robertsonian translocation
(long arm is fused w/another chrom & then passed on) |
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3rd MCC of Down syndrome is
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Down mosaicism
(no maternal assoc; some cells w/tri, some w/o) |
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65% of newborns w/Downs have ___
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polycythemia
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micrognathia, low-set ears, clenched hands, prominent occiput, congenital heart dz
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Edwards (trisomy 18)
(micrognathia = small jaw) |
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cleft lip/palate, holoprosencephaly, polydactyly
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Patau's syndrome (trisomy 13)
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congenital microdeletion of the short arm of chromosome 5
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Cri-du-chat syndrome
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microcephaly, moderate-to-severe MR, high pitched crying, epicanthal folds, cardiac abnormalities
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Cri-du-chat
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congenital microdeletion of long arm of chromosome 7
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Williams syndrome
(deleted region includes elastin gene) |
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"elfin" facies, MR, hypercalcemia, well-developed verbal skills, extreme friendliness w/strangers, CV probs
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Williams syndrome
(↑ sensitivity to vit D) (think Will Farrell in "Elf") |
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22q11 deletion syndromes
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- DiGeorge
- Velocardiofacial syndrome |
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thymic, parathyroid & cardiac defects
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DiGeorge
(22q11 del in 90%) |
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cleft palate, abnl facies & cardiac defects
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Velocardiofacial syndrome
(22q11 del) |
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sxs from 22q11 del syndromes are d/t...
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aberrant development of 3rd & 4th branchial pouches
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