Developmental Genetics and Prenatal disorders
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| in the embryonic phase how many wks are there? | first 3 wks: Blastocyst, Implantation, gastrulation formation of 3 germ layers
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| Initiation of nervous system, basic body plan and organogenesis happens in what wks? | 4 to 8
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| Fetal phase | Wks 9 to 40
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| All cells undergo specifiction and determination to achieve their ultimate differentiated phenotype except what two cells? | 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 | Mosaic Development
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| Transcription factors | control the expression of other genes
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| Mutation of a gene encoding a transcription factor would cause what to happen? | Synpolydactyly (webbing and extra digits) // bone malformations of hands,wrist,feet, and ankles
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| bad cell to cell signaling by cell surface receptor and a ligand can cause birth defects name some? | Achondroplasia, craniosynostoses, Polycyctic Kidney Disease
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| Cell Migration | 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. | Miller-Dieker syndrome, Hirshsprung disease, Waardenburg Syndrome
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| what occurs during development of the immune system to elimnate lymphocyte lineages that react to self, preventing autoimmune disease? | Apoptosis - critical for tissue remodeling during morphogenesis (separation of digits example)
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| What are 3 major categories of birth defects (dysmorphology) | Malformations, Deformations, Disruptions
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| what results from intrinsic abnormalities in one or more genetic programs operating in development? | Malformations (extra fingers)
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| Deformations (common in 2nd Trimenster) | 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. | Disruptions (more difficult to treat)
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| Give % : Complex inheritance ? // Single gene mutations ? // Chromosomal imbalance ? | Complex 50% // Single gene 20% // Chromosomal 25%
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| What is a single causative agent results in abnormalities of more than one organ system in different parts of the embryo or in multiple structures that arise at different times during intrauterine life? | Pleiotrophy (ex: Rubinstein-Taybi Syndrome)
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| What would be 3 indications for prenatal testing by invasive procedures? | 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? | Chorionic Villus Sampling (CVS) // Amniocentese // Cordocentesis // Pre-implantation genetic diagnosis
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| Amniocentesis typically performed when? | 15 or 16th wk
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| Biopsy of tissue from chorionic villi performed b/t what time frame? | 10th and 12th weeks
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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? | Stepwise Sequential Testion
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