Postnatal Diagnosis Of De Novo Complex Der(8) In A Boy With Prenatal Diagnosis Of Recombinant Chromosome 8 Syndrome

Key Clinical Message Recombinant chromosome 8 syndrome is caused by duplication of 8q and deletion of 8p. A fetus with anomalies was misdiagnosed with this syndrome based on an amniocyte karyotype. Postnatal chromosomal microarray and other studies identified a de novo derivative chromosome 8. For fetal anomalies, detailed genetic studies may be required.