18q12.3-q21.1 microdeletion detected in the prenatally alcohol-exposed dizygotic twin with discordant fetal alcohol syndrome phenotype.
Hanna KahilaHeidi MarjonenPauliina AuvinenKristiina AvelaRaili RiikonenNina Kaminen-AholaPublished in: Molecular genetics & genomic medicine (2020)
The microdeletion emphasizes the importance of adequate chromosomal testing in examining the etiology of complex alcohol-induced developmental disorders. Furthermore, the genotype-specific decreased DNA methylation at the IGF2/H19 locus cannot be considered as a biological mark for PAE in adult WBCs.