Chapter 13 Flashcards
what is the Telomere on the chromosome?
tips of chromosome
the p arm is the
short arm
the q arm is the
long arm
what is the centromere
place where sister chromatids attach
Trisomy
one extra chromosome(3 copies)
aneuplodily
abnormal number of chrs
monosomy
missing one chromosome ( one copy of chrs)
polyploidy
complete extra set of chromosomes (not seen in living humans)
deletions
missing a PART of a chromosome
duplications
extra piece of a chromosome
inversions
piece of chrs. gets “flipped” backwards
46, XY
normal male
46, XX
normal female
45, X
Turner syndrome, female
47, XXY
Klinefelter’s syndrome , male
46, XY del(7q7)
deletion of band 7 on long arm
methods for genetic testing of a fetus
aminocentesis, chronionic villus sampling, fetal cell sampling
aminocentesis
fetal cells suspended in the aminotic fluid are sampled
chronionic villus sampling
cells of the chorion are sampled
fetal cell sorting
fetal cells in the maternal blood steam are sampled
