High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings

Matthew Tyreman (1) , Kristin M Abbott (1) , Lionel R Willatt (1) , Richard Nash (1) , Christoph Lees (1) , Joanne Whittaker (1) , Ingrid Simonic (1)

1 Addenbrooke's Hospital

Genome-wide high resolution array analysis is becoming established as a diagnostic test in the investigation of individuals with learning disability and congenital anomalies; many novel microdeletion and microduplication syndromes have already been identified. The diagnostic use of high resolution array genomic hybridisation analysis for prenatal testing remains to be systematically assessed.

Mots clés: Diagnostics; Cytogenetics

Matthew Tyreman, Kristin M Abbott, Lionel R Willatt, Richard Nash, Christoph Lees, et al.. High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings. Journal of Medical Genetics, 2009, 46 (8), pp.531. ⟨10.1136/jmg.2008.065482⟩. ⟨hal-00552687⟩