Six at Sixty. 'Have you tested for 22q?'

Area of Science:

• Genetics
• Developmental Biology
• Psychiatry

Background:

• The 1997 publication detailed the clinical spectrum of interstitial chromosome 22q11 deletions.
• This copy number variation was initially linked to multiple diagnostic labels due to its diverse manifestations.
• Subsequent research has significantly advanced the understanding of the syndrome's clinical and basic science aspects.

Purpose of the Study:

• To review the advancements in understanding 22q11.2 deletion syndrome since 1997.
• To highlight the syndrome's utility as a model for studying psychiatric disorders and cardiovascular development.
• To underscore the importance of updated best practice care informed by new biological insights.

Main Methods:

• Review of clinical and basic science literature published post-1997 concerning 22q11.2 deletion syndrome.
• Analysis of genetic and phenotypic data to elucidate the spectrum of associated features.
• Synthesis of information regarding the impact of hemizygous genes on clinical presentation and biological mechanisms.

Main Results:

• Comprehensive data now exists on the broad clinical spectrum associated with 22q11.2 deletion syndrome.
• Hemizygosity of specific genes within the deleted region has been linked to various clinical features.
• The syndrome serves as a valuable model for investigating complex biological processes.

Conclusions:

• 22q11.2 deletion syndrome is characterized by a wide array of clinical features.
• Continued research has refined best practice care and illuminated the underlying biology.
• The syndrome offers unique insights into psychiatric disease mechanisms, cardiovascular development, and other areas.