Chromosomal Disorders

The video tutorial explains chromosomal mutations, including changes in structure and number, known as chromosomal aberrations. It covers types of rearrangements like deletion, duplication, translocation, and inversion. Heteroploidy, involving changes in chromosome numbers, is divided into euploidy and aneuploidy. Euploidy includes monoploidy and polyploidy, while aneuploidy includes hyperploidy and hypoploidy. The tutorial also discusses chromosomal disorders such as Down syndrome, Turner syndrome, and Klinefelter syndrome, highlighting their causes and characteristics.

What is the term for a change in the total number of genes on a chromosome or their rearrangement?

• Chromosomal mutation

• Genetic drift

• Chromosomal aberration

• Gene mutation

Which type of chromosomal rearrangement involves the loss of a chromosomal segment?

• Translocation

• Deletion

• Inversion

• Duplication

What is the result when an organism gains an entire additional set of chromosomes?

• Haploidy

• Aneuploidy

• Polyploidy

• Monoploidy

What is the term for the addition of one or more chromosomes to the chromosome set of an organism?

• Monosomy

• Hyperploidy

• Hypoploidy

• Nullisomy

Which chromosomal disorder is characterized by an extra copy of chromosome 21?

• Down syndrome

• Klinefelter syndrome

• Turner syndrome

• Patau syndrome

What is the karyotype of a female with Turner syndrome?

• 46 chromosomes, XX

• 47 chromosomes, XYY

• 47 chromosomes, XXY

• 45 chromosomes, XO

Which syndrome is associated with an extra X chromosome in males?

• Klinefelter syndrome

• Down syndrome

• Edwards syndrome

• Turner syndrome