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Article

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

11 May 2015

Abstract excerpt

OBJECTIVES: The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical alternatives such as Prenatal BACs-on-Beads(TM) (PNBoBs(TM) ) have thus been applied. The aim of this study was to provide the frequencies of the submicroscopic defects detectable by PNBoBs(TM) under different prenatal indications. METHODS: A total of 9648 prenatal...

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PMID: 25962607
DOI: 10.1002/pd.4613

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