Module 12
Maternal Child & Children Assignment:
Review vocabulary of dysmorphology
There is an acronym “Family GENES” that is designed to help make a decision to do further evaluation or not.
F-Family history is pretty obvious.
G-Groups of anomalies (3 or more)
E-Extreme presentation (eg: early onset or abnormally severe)
N-Neurologic abnormalities (includes delays or degeneration)
E-Exceptional pathology (rare findings)
S-Surprising lab values (hypocalcemia, severe anemia, abnormal chromosomes etc.)
Assignment Questions:
1. The mother of a child who was just diagnosed with type 1 diabetes turns to the child’s father and says “This is all your fault. Your father has type 2 diabetes”.
Is she correct in her assumption that the child inherited diabetes from his father’s family? Explain your response.
2. John is a 16-year-old who loves to play soccer. His 18-year-old brother, Andre, passed out while playing basketball and has now been diagnosed with long QT syndrome (LQT1).
The cardiologist involved suggests that all Andre’s siblings should have a cardiac examination, including an electrocardiogram (ECG), before they play sports. John’s ECG shows a borderline QT prolongation during activity, so the cardiologist recommends genetic testing.
John tests positive for the same mutation in the gene KCNQ1 (LQT1) that Andre has, and he is told that he must stop playing soccer. He is counseled to take up a less intense sport, like golf.
John is clearly upset and wants to know why this is happening to him. He feels just fine and does not understand why he cannot play his favorite sport
a. What is the connection between sports restrictions and long QT syndrome?
b. How can understanding genetics help to predict who might be affected by long QT syndrome if someone in the family is already affected?
c. How and with what terms will you explain to John why these modifications in exercise are necessary?