Quizs - Ch 13 Notes Part 2- Chromosomal Mutations

Amount of chromosomes in normal human somatic cells

• 44 chromosomes

• 46 chromosomes

• 48 chromosomes

• 42 chromosomes

normal Number of autosomal chromosomes in humans

• 46 autosomal chromosomes

• 44 autosomal chromosomes

• 42 autosomal chromosomes

• 48 autosomal chromosomes

Chromosomal mutations

• Chromosomal mutations during meiosis can include changes to the structure of the chromosome.

  Types of chromosomal structural mutations: Deletion, Duplication, Inversion, Translocation.

• Replication

• Transcription

• Translation

Effects of Nondisjunction in Meiosis I

• All 4 gametes will be abnormal
  -2 will be n+1 (have an extra chromosome)
  -2 will be n+1 (missing a chromosome)

• All 4 gametes will be normal

• 2 gametes will be normal and 2 will be abnormal

• All 4 gametes will be n+1 (have an extra chromosome)

Aneuploidy

• A condition where gametes have 1 extra or 1 missing chromosome due to nondisjunction.

• A genetic disorder caused by the presence of an extra chromosome in all cells.

• A type of mutation that affects the sequence of DNA in a single chromosome.

• A condition where chromosomes fail to separate properly during meiosis.

Amniocentesis

• Involves collecting amniotic fluid to sample fetal cells, typically for use in creating a karyogram.

• A method for determining the sex of the fetus

• A technique for monitoring fetal heart rate

• A test for detecting maternal blood type

Klinefelter syndrome

• Klinefelter syndrome (47,XXY) ; resulting male is sterile.

• Klinefelter syndrome (46,XY); resulting male is fertile.

• Klinefelter syndrome (47,XXX); resulting male has normal fertility.

• Klinefelter syndrome (47,XYY); resulting male has increased testosterone.

Possible chromosomal patterns in Klinefelter’s Syndrome

• XXY

• XY

• XXYY

• XXXY

Monosomy

• Monosomy is the presence of one copy of a chromosome after fertilization.

  
  This condition can lead to genetic disorders such as Turner's syndrome

• The presence of one copy of a chromosome after fertilization.

• A condition where chromosomes are completely absent.

• A genetic disorder caused by an extra chromosome.

Purpose of displaying all chromosomes in a cell

• Examine for abnormalities.

• Determine the age of the cell.

• Count the number of chromosomes present.

• Identify the cell type.