A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay.
Giavanna VerdiDong LiSarah H ElseaBeverly NelsonElizabeth Joyce BhojHakon H HakonarsonKatherine R YearwoodSharmila UpadhyaSarah GluschitzJanice L SmithAndrew K SoberingPublished in: Molecular genetics & genomic medicine (2022)
The combination of clinical features in this individual is most likely due to the partial deletion of 18q and partial duplication of 5p, which to our knowledge has not been previously described.
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