The 22q11.2 microduplication is a genomic disorder, characterized from a variable phenotype ranging from different defects to normality. The most common microduplication of 22q11.2 is 3 Mb in size, but there are also cases reported with atypical duplications between 0.8 Mb and 6Mb. Here, we describe a case of a child with macrocephaly, overgrowth with advanced bone age, attention deficits, evidence of mild mental retardation and dysmorphic features. An array-CGH analysis detected a 252 Kb duplication at the 22q11.2 region inherited from mother and 142 Kb duplication at 8q22.1 region inherited from father. Both parents show mild dysmorphic features. The duplicated genes in chromosomes 22q and 8q are TOP3B and PGCP, respectively. We describe for the first time a patient carrying the smaller atypical 22q11.2 duplication who also presents with mild mental retardation and generalized overgrowth. This patient has an additional duplication in 8q22.1 which may act as a genomic modifier of its clinical phenotype.
Keywords: 22q11.2 Microduplication; ADHD; Array-CGH; Array-comparative genomic hybridization; Attention Deficit Hyperactivity Disorder; CASK; CES; CNVs; Calcium/Calmodulin-dependent Serine protein Kinase; Cat-Eye Syndrome; Copy Number Variations; DGCR; DGV; DNA Topoisomerase III beta gene; Database of Genomic Variants; Di George Critical Region; FMR1; Fragile X Mental Retardation 1; LCR; Low Copy Repeats; MED12; Macrocephaly; Mediator complex subunit 12; NAHR; NSD1; Non Allelic Homologous Recombination; Nuclear receptor binding SET Domain protein 1; Overgrowth; PGCP; Plasma Glutamate Carboxypeptidase; TDR; TOP3B; Typically Deleted Region; UPF3 regulator of nonsense transcripts homolog B; UPF3B.
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