Clinical

Syndromes: 22q11.2 deletion syndrome

A series about conditions with common symptoms that constitute a syndrome
Cleft lip

A series about conditions with common symptoms that constitute a syndrome

The deletion syndrome 22q11.2 is classified as a rare disorder (McGarvey and Hart 2008). According to Shprintzen (2008), the phenotype has variable manifestations with no case of the syndrome reporting all the same clinical findings. Consequently, people presenting with 22q11.2 deletion syndrome can have a widely varied clinical course even among members of the same family, and symptoms involve many parts of the body (Wong 2011).

Diagnosis of 22q11.2 deletion syndrome is shown by the fluorescence in-situ hybridisation (FISH) test when instead of both copies of chromosome 22 lighting up with a fluorescent DNA tag, only one copy reacts.

The main features of 22q11.2DS are:

  • Development of third and fourth pharyngeal pouches, also known as DiGeorge sequence, present
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