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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

Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12.

J Davidsson¹, A Collin, M Oreberg

¹Department of Clinical Genetics, Lund University Hospital, Lund SE 221 85, Sweden. josef.davidsson@med.lu.se

Clinical Genetics

|November 17, 2007

Summary

Supernumerary ring chromosome 12 (SRC 12) characterization reveals a variable gene region, impacting patient phenotypes. Detailed genomic evaluation is crucial for predicting clinical outcomes in SRC cases.

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Area of Science:

Genetics
Genomics
Cytogenetics

Background:

Supernumerary ring chromosomes (SRCs) are found in approximately 10% of prenatal marker chromosomes.
About 60% of individuals with SRCs exhibit an abnormal phenotype.
Molecular genetic characterization of SRCs remains limited.

Observation:

This study presents the first detailed molecular genetic investigation of a supernumerary ring chromosome 12 (SRC 12) using array comparative genomic hybridization (array CGH) and fluorescence in situ hybridization (FISH).
The SRC 12 encompassed a region of chromosome 12 spanning 25.53–46.40 Mb, containing 47 annotated genes, with nine identified as potentially pathogenetic.
A retrospective review of 14 reported SRC 12 cases, including the present one, did not reveal specific recurrent phenotypic features.

Findings:

The SRC 12 contained a significant segment of chromosome 12, including genes with potential pathogenetic relevance.
Variability in breakpoint distribution and ring chromosome size likely contributes to diverse phenotypic presentations in SRC 12 cases.
No specific recurrent clinical features were associated with SRC 12 across the reviewed cases.

Implications:

Array CGH and similar high-resolution genomic techniques are vital for precisely characterizing SRCs.
Accurate genomic evaluation can aid in predicting the clinical course and phenotypic variability in patients with SRCs.
Further research into SRCs is needed to understand genotype-phenotype correlations and improve patient management.