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54 Cards in this Set

  • Front
  • Back
increased in open neural tube defects; decreased in Down syndrome
uses DNA polymerase
Barr body
inactive X chromosome on nuclear membrane; 1 Barr body in females
Missense mutation
point mutation with different amino acid; sickle cell trait/disease, Marfan
Nonsense mutation
point mutation producing stop codon; beta-thalassemia major
Frameshift mutation
insertion or deletion nucleotides alters reading frame; Tay-Sachs
Trinucleotide repeat
disease worse in future generations (anticipation)
Trinucleotide repeat disorders
fragile X (XR), Huntington's (AD), myotonic dystrophy (AD)
meiosis; unequal numbers of chromosomes
Robertsonian translocation:
Down syndrome with 46 chromosomes
Microdeletion syndrome
genomic imprinting; chromosome 15
Paternal microdeletion
Prader-Willi; obese, mental retardation
Maternal microdeletion
Angelman's syndrome; happy puppy syndrome, mental retardation
Advanced maternal age
increased risk for trisomies
Down syndrome
trisomy 21; leading cause mental retardation
S/S of Down's Syndrome
slanted eyes; simian crease; endocardial cushion defect; Alzheimer's
Turner's syndrome
XO; no Barr bodies; short stature and primary amenorrhea; streak ovaries
Klinefelter's syndrome
XXY; 1 Barr body; female secondary sex characteristics
homozygous (aa) for disease; heterozygotes (Aa) asymptomatic
most inborn errors metabolism, sickle cell, cystic fibrosis, hemochromatosis, Wilson's
homozygote (aa) or heterozygote (Aa) express disease
AD examples
spherocytosis, Marfans, neurofibromatosis, von Willebrand, familial polyposis, polycystic kidney
AD phenotypes
delayed manifestation; penetrance; variable expressivity
male transmits to all daughters; female carrier transmits to 50% of sons
XR examples
G6PD deficiency, Bruton, Lesch-Nyhan, testicular feminization, fragile X, hemophilia A/B
Fragile X:
mental retardation; macroorchidism at puberty; trinucleotide repeat
Lesch Nyhan
XR; deficiency HGPRT; hyperuricemia; mental retardation
Multifactorial inheritance
gout, type 2 diabetes, essential hypertension
mtDNA disorder
maternal transmission to all children; no paternal transmission
Y chromosome
determines genetic sex
develops seminal vesicles, epididymis, vas deferens
develops prostate and male external genitalia
Male pseudohermaphrodite
genetic male; phenotypically female
Female pseudohermaphrodite
genetic female; phenotypically male
Testicular feminization
XR; deficient androgen receptors; MCC male pseudohermaphrodite
21-Hydroxylase deficiency
increase 17 KS, decrease 17 OH, lose salt, hypotension; female pseudohermaphrodite
11-Hydroxylase deficiency
inc 17 KS, inc 17 OH, retain salt, hypertension; female pseudohermaphrodite
17-Hydroxylase deficiency
dec 17 KS, dec 17 OH, retain salt, hypertension; male pseudohermaphrodite
Calculate prevalence

carrier rate 1:30; couples at risk: 1:900
prevalence: 1:900 x 1:4 = 1:3600
Calculate carrier rate: 1:3600
3600 = 4 = 900; 1900 = 1:30
intrinsic problem with morphogenesis
HOX gene
involved in embryogenesis
MCC of malformations; mental retardation; atrial septal defect
Isotretinoin acid
craniofacial and cardiac defects
Female with cystic acne needs Rx with retinoic acid
do pregnancy test before placing female on drug
DES defects
problem with mullerian development; clear cell carcinoma of vagina
limb abnormalities
Vertical transmission
transplacental (MC), delivery, breast feeding
Congenital CMV
MC congenital infection; periventricular calcification; culture urine
Congenital toxoplasmosis
basal ganglia calcification; blindness; avoid cat litter in pregnancy
Congenital rubella
sensorineural hearing loss (MC); cataracts
Congenital syphilis
transplacental after 5-6 mths; saddle nose, rhagades, blindness, deformed teeth
Congenital herpes
contracted during delivery; encephalitis
extrinsic problem in fetal development; oligohydramnios causing Potter's facies