Type B Interrupted Aortic Arch and Hydrocephalus Associated with Mosaicism of a 1.37 Mb Amplified Cat Eye Syndrome Critical Region

We described here a boy with a type B interrupted aortic arch and an intracranial cyst progressing to hydrocephalus. The cytogenetic studies showed mosaicism for a de novo small supernumerary marker chromosome 22. Using array comparative genome hybridization, we further observed a duplication length of 1.37 Mb located within the CES critical segment without overlapping that of the microdeletion/duplication 22q11 syndrome. However, there was no coloboma found in this patient. While altered gene dosage has been implicated in the common clinical phenotypes shared by microdeletion/duplication 22q11 syndrome and CES, tissue mosaicism for genetic content may add to the possibilities of explanation for genotype-phenotype correlations.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Source Type: research