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8 Cards in this Set

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