DiGeorge Syndrome

Question 1

Etiology

Answer 1

is a form of immunodeficiency caused by the deletion of a small piece of the 22nd
chromosome. This missing piece contains an estimated 30-40 genes. It can be detected, but not prevented

Question 2

Prevalence?

Answer 2

Affecting ~1 in 2000-4000 live births, it is the most common microdeletion syndrome in humans

Question 3

key characteristics

Answer 3

Heart defects, heart murmur,
bluish skin due to poor circulation of oxygen-rich blood (cyanosis),
cleft palate, underdeveloped chin, and low-set eyes.
small or missing parathyroid glands,
the small or missing thymus gland,
behavioral & emotional problems,
issues with sleep,
frequent infections
, delayed growth & development,
low muscle tone,
learning delays or disabilities

Question 4

Support needs

Answer 4

Consistent routine
Assistance in completing forms
Visual reminders
Medication
Frequent breaks