A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome.

ABSTRACT:

Background

Microduplications 22q11 have been characterized as a genomic duplication syndrome mediated by nonallelic homologous recombination between region-specific low-copy repeats. Here we report on a 19 years old boy with intellectual disability having an unexpected structurally complex ring small supernumerary marker chromosome (sSMC) originated from a larger trisomy and a smaller tetrasomy of proximal 22q11 harboring additional copies of cat eye syndrome critical regions genes.

Results

PRINCIPAL CLINICAL FEATURES WERE: anorectal and urogenital malformations, total anomalous pulmonary venous return with secundum ASD, hearing defect, preauricular pits, seizure and eczema. The proband also presented some rare or so far not reported clinical findings such as hyperinsulinaem

SUBMITTER: Haltrich I 

PROVIDER: S-EPMC4067088 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature