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Updated: Nov 5, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Published on: February 21, 2015

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Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and

Valentina Guida1, Francesca Piceci Sparascio1,2, Laura Bernardini1

  • 1Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

Clinical Genetics
|May 14, 2021
PubMed
Summary

Copy number variants (CNVs) are implicated in Oculo-auriculo-vertebral spectrum (OAVS), a craniofacial developmental disorder. This study found CNVs in 10.5% of OAVS patients, highlighting their role in the condition's genetic heterogeneity.

Keywords:
DACH1, DACH2, congenital heart diseaseGoldenhar syndromePAX-SIX-EYA-DACH networkcopy-number-variantsoculo-auriculo-vertebral spectrum

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