Eyebrow anomalies as a diagnostic sign of genomic disorders

M. Silengo, E. Belligni, C. Molinatto, G. Baldassare, E. Biamino, N. Chiesa, O. Zuffardi, Santhosh Girirajan, E. E. Eichler, G. B. Ferrero

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)28-31
Number of pages4
JournalClinical Genetics
Issue number1
StatePublished - Jan 2010

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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