Conclusions
Our patients exemplify the broad phenotypic spectrum that is characteristic of SYS while at the same time support the previously described phenotype-genotype association suggested by MacArthy et al. 2018, in which they associate the p.Gln666ProfsTer47 MAGEL2variant with more severe clinical outcomes. e This report supports the early utilization of whole genome sequencing, especially in critical settings, to facilitate early diagnosis of rare conditions like SYS, which, in turn, could help save time and resources and help to improve clinical outcomes of patients.
Abbreviations and Acronyms
Arthrogryposis multiplex congenital (AMC)
Copy number variant (CNV)
Gastroesophageal reflux disease (GERD)
Gastrostomy tube (G-tube)
Intrauterine growth restriction (IUGR)
Nasogastric tube (NG tube)
Next Generation Sequencing (NGS)
Neonatal intensive care unit (NICU)
Prader-Willi Syndrome (PWS)
Rapid Whole Genome Sequencing (rWGS)
Schaaf-Yang Syndrome (SYS)
Single nucleotide polymorphisms (SNV)
Small for gestational age (SGA)
Whole Genome Sequencing (WGS)