Developmental Genetics and Prenatal disorders
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in the embryonic phase how many wks are there? | show 🗑
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Initiation of nervous system, basic body plan and organogenesis happens in what wks? | show 🗑
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show | Wks 9 to 40
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show | Germ and Stem
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Cells have already become committed to the point that removal of a portion of an embryo will not allow normal embronic development. *Conjoined Twins | show 🗑
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show | control the expression of other genes
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Mutation of a gene encoding a transcription factor would cause what to happen? | show 🗑
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show | Achondroplasia, craniosynostoses, Polycyctic Kidney Disease
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show | Programmed cell movement especial important in the central nervous system, which is developed from the neural tube
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Cell Migration abnormalities name 3. | show 🗑
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show | Apoptosis - critical for tissue remodeling during morphogenesis (separation of digits example)
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What are 3 major categories of birth defects (dysmorphology) | show 🗑
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what results from intrinsic abnormalities in one or more genetic programs operating in development? | show 🗑
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show | Caused by extrinsic factors impinging physically on the fetus during development (ex: Arthrogryposes contractions of the joints of the extremities)
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Result from destruction of irreplaceable normal fetal tissue due to vascular insufficiency, trauma, or teratogens. | show 🗑
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Give % : Complex inheritance ? // Single gene mutations ? // Chromosomal imbalance ? | show 🗑
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show | Pleiotrophy (ex: Rubinstein-Taybi Syndrome)
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show | Advanced Maternal age, Previous child with de novo chromosomal aneuploidy, a parent with a structural chromosome abnormality, Family history of X-Linked disorder, Risk of neural tube defect in first degree relative
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What are the 4 invasive Test? | show 🗑
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show | 15 or 16th wk
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Biopsy of tissue from chorionic villi performed b/t what time frame? | show 🗑
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Combining results fo 1st and 2nd trimester testing to increase ability to detect autosomal trisomies (especially Trisomy21) is known as what testing? | show 🗑
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Created by:
cmuox2000
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