What distinguishes primary oocytes? What stage are they in? What maintains that stage?
They are arrested in meiosis prophase 1 in the diplotene stage (resting stage) until puberty. They are surrounded by follicular cells that secrete oocyte maturation inhibitor (OMI) to prevent dev.
What are examples of abnormal chromosome number?
- Klinefelter’s (XXY)
- Turner’s Syndrome (X,0)
- Trisomy 21
Describe Klinefelter’s disease
An nondisjunction issue during meiosis ends in XXY. Leading to pt. who is often tall w/ long legs, small testes, aspermatogenesis and less intelligence than siblings
Describe Turner’s Syndrome
A potential nondisjunction during meiosis leading to XO. Female patient who maybe short, webbed neck, lack sexual maturation, broad chest w/ wide nipples
Describe Trisomy 21
Could be a translocation or a nondisjunction error leading to 3 copies of chromo 21. Patients can be male/female and often have cognitive deficiency, flat nasal bridge, protruding tongue, congenital heart defects, and GIT abnormalities
