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

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Published on: February 21, 2015

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

S U Dhar¹, D del Gaudio, J R German

¹Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

American Journal of Medical Genetics. Part A

|February 27, 2010

Summary

22q13.3 deletion syndrome patients share developmental delays and speech issues. Molecular analysis revealed deletion sizes vary, with SHANK3 gene involvement in all cases, but no clear size-phenotype correlation was found.

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Area of Science:

Genetics
Molecular Biology
Developmental Biology

Background:

22q13.3 deletion syndrome is characterized by loss of terminal segments on chromosome 22q.
Patients typically present with intellectual disability and significant speech impairment.
Genotype-phenotype correlations remain poorly understood.

Observation:

Thirteen patients with 22q13.3 deletion syndrome underwent clinical and molecular evaluation.
High-resolution array comparative genomic hybridization (aCGH) was used to precisely map deletions.
Deletion sizes ranged from 95 kb to 8.5 Mb, with recurrent breakpoints noted in SHANK3.

Findings:

All patients exhibited developmental delay and speech abnormalities.
aCGH precisely defined deletion sizes and breakpoints, revealing SHANK3 gene involvement in all subjects.
No direct correlation was observed between deletion size and phenotypic severity.

Implications:

Accurate molecular characterization is crucial for understanding 22q13.3 deletion syndrome.
Further genotype-phenotype correlation studies are needed.
This research provides detailed molecular data to aid future research and clinical management.