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Questions and Answers
What are the two main types of chromosomal abnormalities?
What are the two main types of chromosomal abnormalities?
What is the specific chromosomal abnormality associated with Down's Syndrome?
What is the specific chromosomal abnormality associated with Down's Syndrome?
What is the most common cause of Down's Syndrome?
What is the most common cause of Down's Syndrome?
What is the chromosomal abnormality associated with Klinefelter Syndrome?
What is the chromosomal abnormality associated with Klinefelter Syndrome?
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What is the chromosomal abnormality associated with Turner Syndrome?
What is the chromosomal abnormality associated with Turner Syndrome?
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Which of these is a structural chromosomal abnormality?
Which of these is a structural chromosomal abnormality?
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What is the primary stage of oogenesis, where the oocyte is arrested in prophase I?
What is the primary stage of oogenesis, where the oocyte is arrested in prophase I?
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What is the term for the process where spermatogonia divide mitotically?
What is the term for the process where spermatogonia divide mitotically?
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Spermatogenesis is a process that generates four mature spermatozoa from a single spermatogonium.
Spermatogenesis is a process that generates four mature spermatozoa from a single spermatogonium.
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Teratomas are tumors that arise from pluripotent stem cells.
Teratomas are tumors that arise from pluripotent stem cells.
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Study Notes
Gametogenesis
- Gametogenesis is the process of forming gametes (sex cells).
- There are two main types: oogenesis (female) and spermatogenesis (male).
- Learning outcomes include differentiating mitosis and meiosis, describing the processes of oogenesis and spermatogenesis, and associating chromosomal abnormalities with their clinical conditions.
Chromosomal Abnormalities
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Numerical abnormalities occur when there is an extra or missing chromosome.
- Down syndrome: Extra copy of chromosome 21. Due primarily to non-disjunction in oocyte formation. Risk increases with maternal age.
- Edward's syndrome: Extra copy of chromosome 18.
- Patau syndrome: Extra copy of chromosome 13.
- Klinefelter syndrome: Extra X chromosome (XXY). Boy born with extra X chromosome.
- Triple X syndrome: Extra X chromosome (XXX). Taller than average, increased risk of learning disabilities and delayed speech/language development.
- Turner syndrome: Missing X chromosome (XO, Monosomy). 45 XO karyotype.
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Structural abnormalities occur when a chromosome is broken and a piece is deleted or rearranged.
- Cri-du-chat syndrome: Deletion in short arm 5. Cat-like cry, microcephaly, developmental deficiencies, congenital heart disease.
- Angelman syndrome: Microdeletion in maternal chromosome 15.
- Prader-Willi syndrome: Microdeletion in paternal chromosome 15.
Oogenesis
- Process of female gamete formation.
- Begins during fetal development with primordial follicles.
- Primordial follicles contain primary oocytes arrested in prophase I.
- At puberty, FSH stimulates follicle development.
- Secondary oocyte released during ovulation and completes meiosis II only if fertilization occurs.
Spermatogenesis
- Process of male gamete formation.
- Begins at puberty.
- Spermatogonia undergo mitosis and become primary spermatocytes.
- Primary spermatocytes undergo meiosis I, producing secondary spermatocytes.
- Secondary spermatocytes undergo meiosis II, producing spermatids.
- Spermatids mature into spermatozoa (sperm). This process involves significant morphological changes (acrosome formation, condensation of the nucleus, and the formation of a tail).
- Entire process takes ~74 days.
Teratomas
- Tumors arising from pluripotent stem cells.
- Can differentiate into various tissues (bone, hair, muscle, gut, etc.) from all three germ layers.
- Caused by abnormal migration of primordial germ cells (PGCs) or tumor of epiblastic cells.
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Description
Explore the processes of gametogenesis, including oogenesis and spermatogenesis, and differentiate between mitosis and meiosis. Understand the various chromosomal abnormalities and their associated conditions, including Down syndrome and Klinefelter syndrome.
