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Pedigree Analysis

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Probability Laws

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Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Oogenesis02:07

Oogenesis

In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
Folliculogenesis01:20

Folliculogenesis

Folliculogenesis is the development of ovarian follicles, the specialized structures within the ovarian cortex where oogenesis, or egg development, occurs. This process is essential for female reproductive health and begins during fetal development when primordial follicles are formed. Each primordial follicle comprises a primary oocyte in the center, surrounded by a single layer of squamous pre-granulosa cells. These follicles remain dormant in late prophase I of meiosis until triggered by...