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20 Cards in this Set

  • Front
  • Back
Chromosome aberrations
Health depends on inheriting correct amount of genetic material.
Large scale changes visible w/ light microscope and stains
Extra genetic material=less damaging than losing material
matching of phenotypes to dectable chromosomal abnormalities
Chromosome structure
=made of proteins and DNA
regions: telomeres, origins of replication, centromeres
=tips of chromosomes
gets smaller w/ each division
=constricted portion of a chromosome
Metacentric: divides chrom. equally
Submetacentric: creates 1 long arm (q) and 1 short arm (p)
Acrocentric: creates 1 very short arm
Artificial chromosomes
uses in gene therapy, vehicle for inserting healthy versions of genes
Metaphase chromosomes squashed on slide and stained w/ DNA dye.
Need actively dividing cell and at metaphase stop the cell from doing anything else
Karyotype uses
Clinical: diagnose genetic conditions
Public Health: toxins that cause chrom. aberrations
Evolutionary studies: to indicate evolutionary relatedness b/w species
Visualizing chromosomes
chorionic villus sampling
fetal cell sorting
Remove fetal cells from uterus 14-16 weeks
Cells cultured for 1 week and 20 cells are karyotyped
Causes miscarriage 1/350 cases
Often in older women
Chorionic Villus Sampling
Remove fetal cells from chorionic villi 10-12 week
Earlier detection of potential problems (but less precise)
Greater risk of miscarriage 1/125
Fetal Cell Sorting
separates fetal cells from mother's blood stream
Safe but experimental
extra SETS of chromosomes
triploid=1 extra copy of every chromosome-> too much genetic info, very disruptive (miscarriage)
one missing chromosome or one extra chromosome
trisomy= extra
monosomy=missing (usually fetal)
Autosomal Aneuploidy
Trisomy 21: down's syndrome (mental retardation, short stature, sparse hair, poor reflexes)
Trisomy 18: Edward syndrome (heart defects, displaced liver, growth retardation, sever mental retardation) clenched fists
Sex Chromosome Aneuploidy syndroms
Turner: XO females (delays sexual devt)
Klinefelter: XXY males. (delays sexual devt, causes long limbs)
XYY: causes tallness and acne.falsely linked w/ violent beh
Deletions and Duplications
=extra or missing copies of genes
May be minimal/ no effect on phenotype
=segment of a chromosome becomes reversed
Large or no effect on phenotype, depends on chromosome
=nonhomologous chromosomes exchange segments
Robertsonian: causes loss of genetic info.
Reciprocal: rearrages genetic info (not same as crossing over b/c nonhomologous chromosomes)
chromatids divide along wrong plane
Results in chromosomes w/ identical arms