The most common microdeletion disorder in humans
As prevalent as 1/2000 people in US
22q11 chromosomal defect
Cause by a de novo heterozygous deletion of approximately 2.5 mb in length on chromosome 22q11.
Keep in differential for hypocalcemia of unknown etiology in pediatric patient
Cause by a de novo heterozygous deletion of approximately 2.5 mb in length on chromosome 22q11.
DiGeorge syndrome
Marfan syndrome
Kounis syndrome
Down syndrome
Ehlers-Danlos syndrome
Brash syndrome
Retinoic acid syndrome
Lown-Ganong-Levine syndrome