Bio lesson 1.4 key terms Flashcards
(19 cards)
What is non-disjunction
failure of paired chromosomes to move to opposite poles of the spindle during mitosis or meiosis.
What does non-disjunction result in
Leads to abnormal number of
chromosomes in daughter cells
Define trisomy
Chromosomal abnormality with three homologous chromosomes in a pair of
Define Monosomy
Chromosomal abnormality with a single chromosome in place of a homologous pa
What are the most common trisomies (autosomes)
Trisomy 21 (Down Syndrome)
Trisomy 18 (Edwards Syndrome)
Trisomy 13 (Patau Syndroms)
What are the most common trisomies (sex cells)
XXY (Klinefelter Syndrome)
XYY (Jacobs Syndrome)
XXX (Triple X Syndrome)
XYY (super male)
What is XO
When there is only 1 x-chromosome that is genetically identified in a female (Turner Syndrome)
Define Karyotype
Karyotype displays chromosomes in a single cell by number and size.
(White blood cells extracted, stimulates mitosis, stops metaphase, photo gets taken when chromosomes is the most condensed and then sorted)
What is prenatal testing
Prenatal testing is a test for a genetic disorder that occurs before birth that involves a blood test
At what age are prenatal testing recommended
Recommend for pregnant women over the age of 35 or based on family history
What are the types of prenatal testing and describe them
Amniocentesis (Amniotic fluid,
fluid surrounding the fetus, is extracted)
Chorionic Villus Sampling (Cells from the chorion, a part of the placenta, is
extracted)
Multiple Marker Screening (Tests for hormone levels associated with certain medical conditions)
What are controversies and issues associated with prenatal testing?
Could carry risks on the person getting the test (miscarriage but depends on the test) or could be expected of the person but they may not want it
Errors caused by Changes in Chromosome Structure and the issues during crossing over
Deletion, Duplication, Translocation, Inversion
Explain the issue, Deletion
Cri Du Chat: Deletion of chromosome 5
Explain the issue, Duplication
Charcot-Marie-Tooth: Duplication on chromosome 17
Explain the issue, Translocation
FG Syndrome: Inversion of x chromosome
Explain the issue, Inversion
Chronic Myelogenous Leukaemia: Translocation of chromosome 9 and 22
What are some Examples of monosomy in humans
Phenotypically female, Infertility and Absent menstruation