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Related Experiment Video

Updated: Apr 25, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Central 22q11.2 deletions.

Patrick Rump¹, Nicole de Leeuw, Anthonie J van Essen

¹University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.

American Journal of Medical Genetics. Part A

|August 16, 2014

Summary

This summary is machine-generated.

Central 22q11.2 deletions, distinct from common forms, show fewer heart defects but similar developmental issues. Deletions including MAPK1 gene cause more severe phenotypes in 22q11.2 deletion syndrome.

Keywords:

22q11.2 CRKL MAPK1 TBX1 atypical deletion distal

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Area of Science:

Genetics
Medical Genetics
Human Genetics

Background:

22q11.2 deletion syndrome is a common microdeletion disorder.
Most cases involve LCR22-A to LCR22-D recombination, with TBX1 gene loss being a primary driver.
Smaller deletions distal to TBX1, including CRKL, also contribute to the syndrome's pathogenesis.

Purpose of the Study:

To define and investigate "central 22q11.2 deletions" (LCR22-B to LCR22-D).
To analyze genotype-phenotype correlations in patients with central 22q11.2 deletions.
To compare central deletions with common and distal 22q11.2 deletions.

Main Methods:

Review of clinical findings in 52 patients with central 22q11.2 deletions (27 new cases).
Comparison of phenotypic features across different 22q11.2 deletion types.
Analysis of deletions encompassing the MAPK1 gene.

Main Results:

Central 22q11.2 deletions are associated with lower rates of congenital heart anomalies and de novo occurrences than common/distal deletions.
Renal/urinary tract malformations, developmental delays, cognitive, and behavioral issues are similarly frequent.
Deletions including MAPK1 present a more severe phenotype with increased congenital heart anomalies, growth restriction, and microcephaly.

Conclusions:

Central 22q11.2 deletions represent a distinct subset of the syndrome with specific clinical characteristics.
The presence of MAPK1 deletion significantly impacts the phenotype, leading to more severe outcomes.
Findings enhance understanding of genotype-phenotype correlations within the 22q11.2 deletion syndrome spectrum.