Pedigrees and Karyotyping Analyzing Inheritance Patterns and Chromosomes

Pedigree Karyotype Pedigree Karyotype

Some History Hemophilia has played an important role in Europe's history Hemophilia has played an important role in Europe's history The disease began to crop up in Great Britain's Queen Victoria’s children The disease began to crop up in Great Britain's Queen Victoria’s children It became known as the "Royal disease" because it spread to the royal families of Europe through Victoria's descendants It became known as the "Royal disease" because it spread to the royal families of Europe through Victoria's descendants

The Royal Family Tree

Queen Victoria's son Leopold's Family His daughter, Alice of Athlone, had one hemophilic son (Rupert) and two other children -- a boy and a girl -- whose status is unknown. What is the chance that her other son was hemophilic? What is the probability that her daughter was a carrier? hemophiliac?

Karyotyping Analyzing Chromosomes Analyzing Chromosomes

Normal Female

Normal Male

Engage Genetic Disorders Klinfelter’s Syndrome Klinfelter’s Syndrome Turner Syndrome Turner Syndrome Trisomy 21/Down’s Syndrome Trisomy 21/Down’s Syndrome Trisomy 13 Trisomy 13

47, XX or XY, +13 serious eye, brain, circulatory defects as well as cleft palate. 1:5000 live births. Children rarely live more than a few months. serious eye, brain, circulatory defects as well as cleft palate. 1:5000 live births. Children rarely live more than a few months. Patau Syndrome Patau Syndrome

Cleft Palate

Klinefelter’s Syndrome Male sex organs; unusually small testes, sterile. Breast enlargement and other feminine body characteristics. Normal intelligence. Male sex organs; unusually small testes, sterile. Breast enlargement and other feminine body characteristics. Normal intelligence.

Turner Syndrome the ONLY viable monosomy, female with only one X chromosome, masculine features such as facial hair, usually sterile the ONLY viable monosomy, female with only one X chromosome, masculine features such as facial hair, usually sterile

Super Male and Super Female - Has an XXX - Fertile females with normal intelligence - Has an XXX - Fertile females with normal intelligence Has an XYY - Tall male with heavy acne - Some tendency to mental retardation Has an XYY - Tall male with heavy acne - Some tendency to mental retardation Aggressive tendency Aggressive tendency

Male? Female?

Nondisjunction