Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review.

Background: Recombinant chromosome 4, a rare constitutional rearrangement arising from pericentric inversion, comprises a duplicated segment of 4p13~p15→4pter and a deleted segment of 4q35→4qter. To date, 10 cases of recombinant chromosome 4 have been reported.

Result: We describe the second case in which array-CGH was used to characterize recombinant chromosome 4 syndrome.