12-4 Changes in Chromosome Number

Karyotype -A picture of a person's chromosomes, arranged by size and grouped into homologous pairs. The last pair (#23) are the sex chromosomes.

Normal Male Karyotype

male karyotype

Tests to Examine Chromosomes

Amniocentesis - a needle is used to withdraw fluid from the uterus which contains fetal cells
Chorionic Villi Sampling - a suction tube inserted into the vagina removes fetal cells

Chromosome Mutations

Occassionally, errors occur during cell division that result in the offspringing receiving too many or too few chromosomes(euploidy)

Polyploidy - three or more complete sets of chromosomes. common in plants
Aneuploidy - when an organism has more or less than the normal

monosomy - missing one chromsosome of a set, Ex. XO
trisomy - has an additional chromosome of a set, Ex. Trisomy #21 causes Down Syndrome

Down's Syndrome ( Trisomy #21)

karytype

Other Syndromes -

Turner (XO)
Klinefelter (XXY)
Edward Syndrome (Trisomy 18)
Patau Syndome (Trisomy 13)
Supermale (XYY)
Poly-X Females (XXX)

Student Resources

Karyotype Activity at Learn.Genetics

Karyotype Activity Using Google Slides

How to Interpret a Karyotype


12.4 - Changes in Chromosome Structure

Chromosome Mutations

Inversion (B) | Deletion (A) | Duplication (D) | Translocation (C)

chromosome mutations

Williams Sydrome - deletion on chromosome 7

Cri du Chat Syndrome - deletion on chromosome 5