17 - Cytogenetics Flashcards
What are tissue samples that are appropriate for cytogenetic analysis?
not as important
What is the most popular banding done in cytogenetic analysis?
not as important
Does each chromosome have the same level of gene content? Why is this concept important?
Trisomy 21 (Down), 13 (Patau), 18 (Edward’s)
What is the anatomy of a chromosome?
What is the layout of a human karyogram?
not as important
Describe karyotype nomcenclature.
not as important
Describe Aneuploidy.
What is genetic mosaicism?
What is Trisomy 21? Common hallmarks?
What is Trisomy 18? Common hallmarks?
What is Trisomy 13? Common hallmarks?
What are common features of trisomies?
What is a sex chromosome abnormality genertally?
What is Klinefelter syndrome? Common hallmarks?
What is Turner syndrome? Common hallmarks?
Why is cytogenetic analysis important in conception?
not as important
What other abnormalities of ploidy are there besides the better known trisomies?
not as important
What are chromosomal structural rearrangements generally?
also translocations, robertsonian translocations, and inversions
What are clinical disorders resulting from partial chromosomal loss from structural rearrangement?
What is Wolf-Hirshhorn syndrome? Common hallmarks?
What is Cri-du-chat syndrome? Common hallmarks?
What are translocations in chromosomal structural rearrangements?
What are robertsonian translocations? Why are they important?
What are inversions in chromosomal structural rearrangement?
How can you detect structural rearrangements in chromosomes?
Quick general overview of FISH?
