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54 Cards in this Set
- Front
- Back
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AFP
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increased in open neural tube defects; decreased in Down syndrome
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PCR
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uses DNA polymerase
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Barr body
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inactive X chromosome on nuclear membrane; 1 Barr body in females
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Missense mutation
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point mutation with different amino acid; sickle cell trait/disease, Marfan
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Nonsense mutation
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point mutation producing stop codon; beta-thalassemia major
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Frameshift mutation
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insertion or deletion nucleotides alters reading frame; Tay-Sachs
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Trinucleotide repeat
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disease worse in future generations (anticipation)
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Trinucleotide repeat disorders
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fragile X (XR), Huntington's (AD), myotonic dystrophy (AD)
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Nondisjunction
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meiosis; unequal numbers of chromosomes
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Robertsonian translocation:
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Down syndrome with 46 chromosomes
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Microdeletion syndrome
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genomic imprinting; chromosome 15
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Paternal microdeletion
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Prader-Willi; obese, mental retardation
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Maternal microdeletion
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Angelman's syndrome; happy puppy syndrome, mental retardation
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Advanced maternal age
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increased risk for trisomies
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Down syndrome
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trisomy 21; leading cause mental retardation
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S/S of Down's Syndrome
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slanted eyes; simian crease; endocardial cushion defect; Alzheimer's
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Turner's syndrome
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XO; no Barr bodies; short stature and primary amenorrhea; streak ovaries
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Klinefelter's syndrome
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XXY; 1 Barr body; female secondary sex characteristics
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AR
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homozygous (aa) for disease; heterozygotes (Aa) asymptomatic
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AR
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most inborn errors metabolism, sickle cell, cystic fibrosis, hemochromatosis, Wilson's
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AD
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homozygote (aa) or heterozygote (Aa) express disease
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AD examples
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spherocytosis, Marfans, neurofibromatosis, von Willebrand, familial polyposis, polycystic kidney
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AD phenotypes
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delayed manifestation; penetrance; variable expressivity
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XR
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male transmits to all daughters; female carrier transmits to 50% of sons
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XR examples
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G6PD deficiency, Bruton, Lesch-Nyhan, testicular feminization, fragile X, hemophilia A/B
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Fragile X:
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mental retardation; macroorchidism at puberty; trinucleotide repeat
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Lesch Nyhan
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XR; deficiency HGPRT; hyperuricemia; mental retardation
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Multifactorial inheritance
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gout, type 2 diabetes, essential hypertension
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mtDNA disorder
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maternal transmission to all children; no paternal transmission
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Y chromosome
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determines genetic sex
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Testosterone
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develops seminal vesicles, epididymis, vas deferens
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Dihydrotestosterone
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develops prostate and male external genitalia
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Male pseudohermaphrodite
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genetic male; phenotypically female
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Female pseudohermaphrodite
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genetic female; phenotypically male
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Testicular feminization
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XR; deficient androgen receptors; MCC male pseudohermaphrodite
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21-Hydroxylase deficiency
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increase 17 KS, decrease 17 OH, lose salt, hypotension; female pseudohermaphrodite
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11-Hydroxylase deficiency
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inc 17 KS, inc 17 OH, retain salt, hypertension; female pseudohermaphrodite
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17-Hydroxylase deficiency
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dec 17 KS, dec 17 OH, retain salt, hypertension; male pseudohermaphrodite
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Calculate prevalence
carrier rate 1:30; couples at risk: 1:900 |
prevalence: 1:900 x 1:4 = 1:3600
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Calculate carrier rate: 1:3600
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3600 = 4 = 900; 1900 = 1:30
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Malformation:
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intrinsic problem with morphogenesis
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HOX gene
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involved in embryogenesis
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MCC of malformations; mental retardation; atrial septal defect
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Alcohol
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Isotretinoin acid
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craniofacial and cardiac defects
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Female with cystic acne needs Rx with retinoic acid
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do pregnancy test before placing female on drug
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DES defects
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problem with mullerian development; clear cell carcinoma of vagina
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Thalidomide
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limb abnormalities
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Vertical transmission
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transplacental (MC), delivery, breast feeding
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Congenital CMV
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MC congenital infection; periventricular calcification; culture urine
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Congenital toxoplasmosis
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basal ganglia calcification; blindness; avoid cat litter in pregnancy
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Congenital rubella
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sensorineural hearing loss (MC); cataracts
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Congenital syphilis
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transplacental after 5-6 mths; saddle nose, rhagades, blindness, deformed teeth
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Congenital herpes
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contracted during delivery; encephalitis
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Deformation
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extrinsic problem in fetal development; oligohydramnios causing Potter's facies
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