Chromosomal Disorders

Down Syndrome is a disorder characterized by...

• The presence of an extra chromosome 21

• The absence of a chromosome 21

• A translocation mutation

• An inversion mutation

A disorder in which an organism receives three copies of a chromosome as a result of a nondisjunction mutation during meiosis.

• Trisomy

• Triploid

• Inversion

• Duplication

Trisomy disorders are the result of a _______ mutation during Meiosis.

• Inversion

• Translocation

• Nondisjunction

• Duplication

T/F: The chances of a child being born with Down Syndrome increase with the age of the mother.

• True

• False

A mutation that involves part of a chromosome breaking off, resulting in missing genes.

• Inversion

• Nondisjunction

• Translocation

• Deletion

A mutation that involves part of a chromosome copies itself, resulting in extra genes.

• Inversion

• Duplication

• Translocation

• Deletion

Diploid cells are abbreviated...

• n

• 2n

• 4n

• 2x

What would be the correct karyotype notation for a normal human male somatic cell?

• 46, XY

• 46, XX

• 46, XXY

• 45+1Y

A chromosome is represented by A-B-C-D-E-F-G

What type of mutation occurred if the resulting chromosome was

A-B-C-E-F-G

• Translocation

• Inversion

• Deletion

• Duplication

Female with impacted growth and sexual development complications including fold on back of neck, lack of menstruation, brown spots on body, and lack of breast development.

• Turner

• Down

• Klinefelter's

• Edward's

• Colorblindness