Interphase - cell feeds, metabolizes and grows while replicating DNA in preparation for
mitosis
Prophase - first appearance of chromosomes (will be 92)
Metaphase - Centrioles pull chromosomes to opposite sides of cell (chromatid) - 46
each side
Anaphase - Centromeres split and sister chromatids are pulled apart
Telophase - New nuclear membrane formed around each group of 46 chromosomes
*When it goes right, euploid cells are produced*
Nondisjunction - Error in meiosis in which homologous chromosomes fail to separate.
Polyploidy - condition in which an organism has extra sets of chromosomes
Triploidy - when an organism has three copies of every chromsome instead of two
Tetrapoloidy - euploid has 92 chromosomes and fetus usually does not survive
Huntington's disease - Single gene disorder (trinucleotide repeat mutation)
Autosomal dominant (50% chance of passing it on)
Progressive neurologic disease with late onset (40s)
Prevention- genetic testing for pregnancy planning
Cystic fibrosis - Single gene disorder (CFTR gene mutation)
Autosomal recessive
Most common in white children
Defective transport of chloride ions cause salt imbalance- thickened secretions,
digestive issues, malnutrition. Males and females
Must inherit two copies of gene (1 from each parent)
Turner syndrome - XO chromosomal disorder, monosomy of X-affects females
Short stature, webbed neck, undeveloped breasts but female genitalia, usually sterile
Down syndrome - Chromosomal disorder, trisomy 21
Affects both sexes
Intellectual disability, poor muscle tone, low nasal bridge, low set ears, protruding
tongue, epicanthal fold
Fragile X syndrome - Chromosomal disorder (break in long arm of X)
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller VasilyKichigin. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $13.48. You're not tied to anything after your purchase.
