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8 Cards in this Set
- Front
- Back
What is the only monosomy with a viable phenotype? What is the name of this condition, what are the symptoms?
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turner syndrome - single X chromosome. female, short with webbed necked, gonadal dysgenesis and no sexual maturation
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which three (autosomal) chromosomes have associated trisomies?
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18, 13, and 21
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What is the karyotype of Klinefelter syndrome? What are some of the symptoms?
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XXY - sterility, tall, gynecomastia
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Which two syndromes are caused by microdeletions on chromosome 15?
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maternal - Angelman syndrome (retardation, cant speak, poor motor development, laughing spells), Paternal - prader willi syndrome (hypotonia, obesity, retardation, hypogonadism)
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what is the trophoblast? Describe the two layers it develops into
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outer layer of cells of the blastocyst. in the second week, its layers are the synctiotrophoblast - multinucleated outer layer that maternal sinusoids grow into. cytotrophoblast - inner layer that develops into villi lining
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In which areas do mesodermal cells not invade between the epiblast and hypoblast?
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The buccopharyngeal and cloacal membranes.
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what is the embryonic cause of caudal dysgenesis?
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insufficient mesodermal cell development in the caudal embryo - causes malformations of lower limbs, urogenital systems, and sacrolumbar vertebrae
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what is a sacrococcygeal teratoma? what embryologic defect causes it?
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differentiated tumors on the sacral region, caused by pluripotent cells of the primitive streak that remain and continue proliferating
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