Eyebrow anomalies as a diagnostic sign of genomic disorders
Article first published online: 21 DEC 2009
© 2010 John Wiley & Sons A/S
Volume 77, Issue 1, pages 28–31, January 2010
How to Cite
Silengo, M., Belligni, E., Molinatto, C., Baldassare, G., Biamino, E., Chiesa, N., Zuffardi, O., Girirajan, S., Eichler, E. and Ferrero, G. (2010), Eyebrow anomalies as a diagnostic sign of genomic disorders. Clinical Genetics, 77: 28–31. doi: 10.1111/j.1399-0004.2009.01347.x
- Issue published online: 21 DEC 2009
- Article first published online: 21 DEC 2009
- Received 12 October 2009, revised and accepted for publication 9 November 2009
Vol. 77, Issue 4, 408, Article first published online: 16 MAR 2010
- array CGH;
- eyebrow pattern;
- genomic disorders
Silengo M, Belligni E, Molinatto C, Baldassare G, Biamino E, Chiesa N, Zuffardi O, Girirajan S, Eichler EE, Ferrero GB. Eyebrow anomalies as a diagnostic sign of genomic disorders.
Microdeletions and microduplications in the human genome, termed genomic disorders, contribute to a high proportion of human multisystemic neurodevelopmental diseases and are detected by array-based comparative genomic hybridization (aCGH). In general, most genomic disorders are associated with craniofacial and skeletal features and behavioural abnormalities, in addition to learning disability and developmental delay (LD/DD). Specifically, recognition of a characteristic ‘acial gestalt’ has been the key to distinguish one genomic disorder from the other. Here, we report our experience concerning the relevance of abnormal eyebrow pattern as a diagnostic indicator of specific genomic disorders.