HBIO 370 FINAL EXAMS QUESTIONS AND ANSWERS WITH COMPLETE SOLUTIONS VERIFIED A++

What are par genes Genes located on both X and Y chromosomes that behave like autosomes (not sex inhertied) What are shox genes and what do they determine regions within par genes that stature what is the function of 21 alpha hydroxylase? What does deficiency of this enzyme result in? enzyme crucial for production of cortisol and aldosterone. overproduction of androgens and salt wasting Aldosterone function retain water and salt and secretion of potassium cortisol function glucose availability in the blood, inflammatory response What happens when someone has a mutation causing Congenital Adrenal Hyperplasia (CAH)? salt wasting, hyperkalemia, dehydration, hypoglycemia, arrythmia, virilization, elevated ACTH what are the conditions for children with simple virilizing CAH appear more masculine, elevated androgen levels, normal cortisol and aldosterone aromatase function enzyme that converts androgens to estrogen hormones how does aromatase deficiency affect XX and XY fetus. XX will have ambiguous genitalia, amenorrhea XY will still have male genitalia both will have osteoporosis due to estrogen deficiency what tissue produces sex steroids and contains a lot of the enzymes? fat tissue, which contain steroid enzymes what is an example of non-classical CAH that we discussed in class? 11 beta hydroxylase deficiency, 3 beta hydroxysteroid dehydrogenase What stage in development are all major organ systems established? How long is this period? embryonic development stage, 8 weeks hypertrophy vs hyperplasia hypertrophy is increase in cell size, hyperplasia is increase in cell number what are the 5 steps in development proliferation, growth, differentiation, pattern formation, morphogenesis. what is gastrulation and when does it take place? when three tissue layers begin to form and it begins on day 14. No more stem cells What day does neurulation begin day 19-21 what day does the future head neck mouth and nose develop 21-24 by what week is the fetus formed? week 8 what two types of cells can be distinguished during compaction trophoblast cells and inner cell mass what day does the blastocyst attach onto the uterine wall day 6-7 what is an indicator of gastrulation occuring primitive streak what are malformations? structural defects in one or more organs resulting in abnormal development. Usually due to genetic mutations or chromosomal abnormalities Disruption abnormal structure of organ or tissue due to external factors such as trauma or infection. what are amniotic bands example of disruption in development that occurs when strand of amnion becomes entwined around the fetus' limb What are deformations and what are they usually caused by defect resulting from abnormal mechanical force. Caused by reduced amniotic fluid, intrauterine crowding, or abnormal uterus structure. Good prognosis! What parts of the body does ectodermal dysplasia affect hair, teeth, skin, nails Sequence vs syndrome vs association sequence is a cascade of deformations due to a single malformation Syndrome is group of signs and symptoms due to a common factor that could be genetic, environmental or unknown Association is appearance of multiple anomalies together more frequently than expected by chance. what is potter sequence