2 research outputs found
CNVs type in patients with clinically significant CNVs and patients with CNVs of unknown clinical significance.
<p>CNVs type in patients with clinically significant CNVs and patients with CNVs of unknown clinical significance.</p
Management recommendations for clinically significant CNVs and recommendation according to the level of evidence.
<p>Abbreviations: MCA = Multiple Congenital Anomalies; DD = Developmental Delay; ASD = Autism Spectrum Disorders; Dys = Dysmorphism; UCS = Uncertain Clinical Significance.</p><p>Abbreviations: S = Surveillance; R =  specialist Referral/assessment; D = Diagnostic testing; P = medical/surgical Procedure; M = Medication administration; L = Lifestyle recommendation; O = Other interventions.</p><p>* = pathogenic CNVs, ∧ = likely pathogenic CNVs.</p><p>N = not tested; Mat  =  maternal inheritance; Pat  =  paternal inheritance.</p><p>Management recommendations for clinically significant CNVs and recommendation according to the level of evidence.</p