Genetic Disorder Challenge: Diagnoses

Name:______Date:______Hour:______Genetic Disorder Challenge: Diagnoses 1. Patient #1: Carla Carla was diagnosed with a genetic disorder when she was a baby. The pedigree on the right shows how the genetic disorder has been inherited in Carla’s extended family. Carla’s mother Ann took her to the pediatrician when she was a baby due to the following persistent symptoms that she was experiencing: . Chronic respiratory illness . Salty skin . Frequent coughing/wheezing . Weight loss

Which genetic disorder does Carla suffer from? ______

How do you know that Carla has this disorder? Use the pedigree and symptom list to defend your diagnosis.

Which classmate’s research paper did you use to help you make this diagnosis? (first name & hour) ______

2. Patient #2: Kurt

Kurt and other members of Kurt’s extended family suffer from a serious genetic disorder. The pedigree on the left shows how the genetic disorder has been inherited throughout his family. Kurt is individual II-2 in the pedigree. Carriers are not indicated on this pedigree. Kurt’s symptoms include:

. Spontaneous bruising . Painful joint bleeding . Prolonged oozing/bleeding after injuries

Which genetic disorder does Kurt suffer from? ______

How do you know that Kurt has this disorder? Use the pedigree and symptom list to defend your diagnosis.

3. Patient #3: Erin Erin was diagnosed with a genetic disorder as a newborn. Her brother also suffers from the same disorder. The pedigree below shows how the genetic disorder has been inherited in Erin’s family. Erin is individual III-2 in the pedigree. Erin’s symptoms are progressing as she grows older and they include:

. Short stature, shortened limbs, an abnormally large head (macrocephaly) . Apnea . Obesity . Frequent ear infections . Bowed legs

Which genetic disorder does Erin suffer from? ______

How do you know that Erin has this disorder? Use the pedigree and symptom list to defend your diagnosis.

Name:______Date:______Hour:______

4. Patient #4: Lou Lou’s parents were upset to discover that Lou suffers from a fatal genetic disorder that runs in his extended family. The pedigree below shows how the genetic disorder has been inherited in Lou’s family. Lou is individual III-1 in the pedigree.

Lou’s symptoms at age two include: . Seizures . Diminishing mental function . Worsening paralysis

Which genetic disorder does Lou suffer from? ______

How do you know that Lou has this disorder? Use the pedigree and symptom list to defend your diagnosis.

5. Patient #5: Greg Greg’s parents began to notice some concerning abnormalities with Greg when he was three years old. Greg’s pediatrician correctly diagnosed Greg with rare genetic disorder. The pedigree below shows how the genetic disorder has been inherited in Greg’s family. Greg is individual III-6. His cousin Bill also suffers from the disease.

Greg’s symptoms at age three include: . Muscle weakness/delayed motor skills . Enlarged calf muscles

Eventually Greg will be wheelchair-bound and he may develop an enlarged heart (cardiomyopathy).

Which genetic disorder does Greg suffer from? ______

How do you know that Greg has this disorder? Use the pedigree and symptom list to defend your diagnosis.

6. Patient #6: Ben Ben was diagnosed with a genetic disorder at a very early age. The pedigree below shows how the genetic disorder has been inherited in Ben’s family. Ben is individual IV-3 in this pedigree.

Ben’s symptoms include: . A low number of red blood cells (anemia) . Shortness of breath . Fatigue . Episodes of intense pain

Which genetic disorder does Ben suffer from? ______

How do you know that Ben has this disorder? Use the pedigree and symptom list to defend your diagnosis.

Name:______Date:______Hour:______Which classmate’s research paper did you use to help you make this diagnosis? (first name & hour) ______