Non-Disjunction, Aneuploidy & Abnormalities in Chromosome Structure Packet #21 Chapters #6 & 7 2 Introduction I Ploidy Degree of repetition of the basic number of
chromosomes Diploidy Chromosomes repeat 2X Remember, in humans, you have one copy of a chromosome from the maternal father and one from the maternal mother Euploidy True ploidy In the case of somatic human cells, euploidy occurs when the cell is diploid.
Friday, February 28, 2020 3 Aneuploidy Not True ploidy Having too many or too few chromosomes. Non-Disjunction
An event that occurs occasionally during meiosis in which a pair of chromosomes fail to separate so that the resulting germ (sex) cell has either too many or too few chromosomes Friday, February 28, 2020
Genetic Disorders Caused by Aneuploidy Sex Chromosome Aneuploidy 5 Turner Syndrome 2n - 1 45 XO 44 autosomes + 1 X
chromosome There is the absence of a sex chromosome Female in appearance but their female sex organs do not develop at puberty and they are sterile Short in stature
Shows normal intelligence but some cognitive functions are defective 1 in 5000 female births show Turner Syndrome Friday, February 28, 2020 6 Turner Syndrome II
Friday, February 28, 2020 7 Klinefelter Syndrome 2n + 1 47 XXY 44 autosomes + 3 sex chromosomes
There is an extra X chromosome Male in appearance and they too are sterile Female type pubic hair pattern May have breast development Friday, February 28, 2020
8 Klinefelter Syndrome II Friday, February 28, 2020 Comparison of Turner & Klinefelter Syndromes
Friday, February 28, 2020 9 10 XYY vs. XXX XXY Males that are usually fertile
Predisposition to be more violent in behavior Gametes never YY or XY-meiosis is normal After age of 35, extra Y chromosome often degenerates and is not passed onto offspring Friday, February 28, 2020 XXX
Fertile females May be some mental disabilities Eggs will produce only X after meiosis--not XX Genetic Disorders Caused by Aneuploidy Autosomal Aneuploidy Down SyndromeTrisomy 21
Caused by an extra copy of chromosome #21 There are three copies of chromosome #21 in their somatic cells 0.15 percent of all live births Growth failure and mental retardation Big toes widely spaced Congenital heart disease Mean life expectancy is
about 17 years and only 8 % survive past age 40 Patau Syndrome Trisomy 13 Multiple defects Death is typical by the age of 3 Edwards Syndrone Trisomy 18
Ear deformities Heart defects Spasticity and other damage Death is typical by the age of 1 Some may survive longer Genetic Screening & Pedigrees
Genetic Screening & Genetic Counseling Genetic Screening Identifies individuals who might carry a serious genetic disease Screening of newborns is the first step in
preventative medicine Genetic Counseling Provide couples, concerned about the risk of abnormality in their children, medical and genetic information Pedigrees
Definition A family tree that shows the transmission of genetic traits within a family over several generations. Pedigree Analysis Useful in detecting autosomal dominant mutations, autosomal recessive mutations, X linked recessive mutations and defects due to genomic imprinting
Genomic Imprinting Expressions of a gene based on its parental origin Pedigree Analysis Pedigree Analysis Review
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