title: Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
abstract: 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.
authors: CEINGE Advanced Biotechnology, S.c.a.r.l., Naples, Italy. Electronic address: marinatarsitano@hotmail.com.
authors: Marina
authors: M
authors: Tarsitano
authors: CEINGE Advanced Biotechnology, S.c.a.r.l., Naples, Italy.
authors: Carlo
authors: C
authors: Ceglia
authors: Mendel Laboratory, Casa Sollievo della Sofferenza IRCCS, Viale Regina Margherita 261, 00198 Rome, Italy.
authors: Antonio
authors: A
authors: Novelli
authors: Mendel Laboratory, Casa Sollievo della Sofferenza IRCCS, Viale Regina Margherita 261, 00198 Rome, Italy.
authors: Anna
authors: A
authors: Capalbo
authors: CEINGE Advanced Biotechnology, S.c.a.r.l., Naples, Italy; Department Biochemistry and Medical Biotechnology, University of Naples "Federico II", Naples, Italy.
authors: Barbara
authors: B
authors: Lombardo
authors: CEINGE Advanced Biotechnology, S.c.a.r.l., Naples, Italy; Department Biochemistry and Medical Biotechnology, University of Naples "Federico II", Naples, Italy.
authors: Lucio
authors: L
authors: Pastore
authors: Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
authors: Gennaro
authors: G
authors: Fioretti
authors: Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
authors: Laura
authors: L
authors: Vicari
authors: Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
authors: Maria Antonietta
authors: MA
authors: Pisanti
authors: Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
authors: Patrizia
authors: P
authors: Friso
authors: Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
authors: Maria Luigia
authors: ML
authors: Cavaliere
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D058674:Chromosome Duplication / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D014314:Trisomy / Q000235:genetics*
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