Problem
Mr. and Mrs. Garcia are concerned about their three-year old daughter, Ana. Like all babies, Ana was chubby as she put on weight after she was born. However, Ana did not seem to lose her baby fat. Her hands and feet were especially fat. The older Ana got, the more unusual she looked. She was unusually short, had low-set ears, drooping eyelids, and small, spoon-shaped nails. While each of these caused concern, it wasn't until Ana showed signs of hearing problems that the Garcias were spurred into action.
The Garcias saw a daytime talk show that covered genetic illnesses and thought to themselves that Ana may have such a problem. The Garcias had always planned on having more children but are afraid that they may be carriers of a genetic disorder that they will pass on to other children.
Chromosomes were obtained from a buccal smear (cheek scraping).
1. What is the diagnosis reached from this karyotype?
2. List two or three positive outcomes of this diagnosis that should make the Garcias feel better.
3. List two or three medical issues that her parents should keep an eye out for as Ana gets older
4. Should the Garcia family be concerned about having another daughter with this condition? Why or why not?