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 'facial 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.

Eyebrow anomalies as a diagnostic sign of genomic disorders

CIRILLO, Margherita;BELLIGNI, ELGA FABIA;MOLINATTO, Cristina;BALDASSARRE, GIUSEPPINA;BIAMINO, ELISA;CHIESA, Nicoletta;FERRERO, Giovanni Battista
2010

Abstract

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 'facial 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.
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array CGH; dysmorphology; eyebrow pattern; genomic disorders
Silengo M; Belligni E; Molinatto C; Baldassarre G; Biamino E; Chiesa N; Zuffardi O; Girirajan S; Eichler EE; Ferrero GB
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/73411
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