Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.

Michal YechieliSuleyman GulsunerHilla Ben-PaziAviva FattalAdi AranAlla KuzminskyLiora SagiDafna GuttmanNira Schneebaum SenderVarda Gross-TsurTehila KlopstockTom WalshPaul RenbaumSharon ZeligsonLilach Shemer MeiriDorit LevDorit ShmueliLuba BlumkinAmnon LahadMary-Claire KingEphrat Lahad LevyReeval Segel

Published in: Journal of medical genetics (2021)

Cryptogenic CP is genetically highly heterogeneous. Genomic analysis has a high yield and is warranted in all these patients. Trio WES has higher yield than CMA, except in patients with congenital anomalies or major dysmorphic features, but these methods are complementary. Patients with negative results with one approach should also be tested by the other.

Keyphrases

cerebral palsy
end stage renal disease
newly diagnosed
chronic kidney disease
prognostic factors
gene expression
patient reported outcomes
genome wide