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Developmental Genetics and Prenatal disorders

in the embryonic phase how many wks are there? first 3 wks: Blastocyst, Implantation, gastrulation formation of 3 germ layers
Initiation of nervous system, basic body plan and organogenesis happens in what wks? 4 to 8
Fetal phase Wks 9 to 40
All cells undergo specifiction and determination to achieve their ultimate differentiated phenotype except what two cells? Germ and Stem
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
Transcription factors control the expression of other genes
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
bad cell to cell signaling by cell surface receptor and a ligand can cause birth defects name some? Achondroplasia, craniosynostoses, Polycyctic Kidney Disease
Cell Migration Programmed cell movement especial important in the central nervous system, which is developed from the neural tube
Cell Migration abnormalities name 3. Miller-Dieker syndrome, Hirshsprung disease, Waardenburg Syndrome
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)
What are 3 major categories of birth defects (dysmorphology) Malformations, Deformations, Disruptions
what results from intrinsic abnormalities in one or more genetic programs operating in development? Malformations (extra fingers)
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)
Result from destruction of irreplaceable normal fetal tissue due to vascular insufficiency, trauma, or teratogens. Disruptions (more difficult to treat)
Give % : Complex inheritance ? // Single gene mutations ? // Chromosomal imbalance ? Complex 50% // Single gene 20% // Chromosomal 25%
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)
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
What are the 4 invasive Test? Chorionic Villus Sampling (CVS) // Amniocentese // Cordocentesis // Pre-implantation genetic diagnosis
Amniocentesis typically performed when? 15 or 16th wk
Biopsy of tissue from chorionic villi performed b/t what time frame? 10th and 12th weeks
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
Created by: cmuox2000