Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health

DOI: 10.1186/s13023-019-1098-1

Keywords: 22q11.2 deletion syndrome, Clinical criteria, Diagnosis, Public health, Fluorescence in situ hybridization, Multiplex ligation probe-dependent amplification, Chromosomal microarray analysis

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Abstract:

Clinical guidelines for screening the 22q11.2 deletion proposed by Monteiro et al. [22

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