De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl

Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome

“…There are very few reported individuals with invdup8p in addition to dup8q and del8p. The most similar patient was reported by Sánchez‐Casillas et al and had the same 8p deletion, a larger 8q duplication, and a much smaller 8p duplication. Her phenotype was significantly milder in growth and developmental delays, and she had no congenital heart disease.…”