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Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
Gene 2014; 536(1):213-6GENE

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+Show Affiliations

CEINGE Advanced Biotechnology, S.c.a.r.l., Naples, Italy. Electronic address: marinatarsitano@hotmail.com.CEINGE Advanced Biotechnology, S.c.a.r.l., Naples, Italy.Mendel Laboratory, Casa Sollievo della Sofferenza IRCCS, Viale Regina Margherita 261, 00198 Rome, Italy.Mendel Laboratory, Casa Sollievo della Sofferenza IRCCS, Viale Regina Margherita 261, 00198 Rome, Italy.CEINGE Advanced Biotechnology, S.c.a.r.l., Naples, Italy; Department Biochemistry and Medical Biotechnology, University of Naples "Federico II", Naples, Italy.CEINGE Advanced Biotechnology, S.c.a.r.l., Naples, Italy; Department Biochemistry and Medical Biotechnology, University of Naples "Federico II", Naples, Italy.Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24315824

Citation

Tarsitano, Marina, et al. "Microduplications in 22q11.2 and 8q22.1 Associated With Mild Mental Retardation and Generalized Overgrowth." Gene, vol. 536, no. 1, 2014, pp. 213-6.
Tarsitano M, Ceglia C, Novelli A, et al. Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth. Gene. 2014;536(1):213-6.
Tarsitano, M., Ceglia, C., Novelli, A., Capalbo, A., Lombardo, B., Pastore, L., ... Cavaliere, M. L. (2014). Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth. Gene, 536(1), pp. 213-6. doi:10.1016/j.gene.2013.11.051.
Tarsitano M, et al. Microduplications in 22q11.2 and 8q22.1 Associated With Mild Mental Retardation and Generalized Overgrowth. Gene. 2014 Feb 15;536(1):213-6. PubMed PMID: 24315824.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth. AU - Tarsitano,Marina, AU - Ceglia,Carlo, AU - Novelli,Antonio, AU - Capalbo,Anna, AU - Lombardo,Barbara, AU - Pastore,Lucio, AU - Fioretti,Gennaro, AU - Vicari,Laura, AU - Pisanti,Maria Antonietta, AU - Friso,Patrizia, AU - Cavaliere,Maria Luigia, Y1 - 2013/12/04/ PY - 2013/09/23/received PY - 2013/11/04/revised PY - 2013/11/22/accepted PY - 2013/12/10/entrez PY - 2013/12/10/pubmed PY - 2014/3/5/medline KW - 22q11.2 Microduplication KW - ADHD KW - Array-CGH KW - Array-comparative genomic hybridization KW - Attention Deficit Hyperactivity Disorder KW - CASK KW - CES KW - CNVs KW - Calcium/Calmodulin-dependent Serine protein Kinase KW - Cat-Eye Syndrome KW - Copy Number Variations KW - DGCR KW - DGV KW - DNA Topoisomerase III beta gene KW - Database of Genomic Variants KW - Di George Critical Region KW - FMR1 KW - Fragile X Mental Retardation 1 KW - LCR KW - Low Copy Repeats KW - MED12 KW - Macrocephaly KW - Mediator complex subunit 12 KW - NAHR KW - NSD1 KW - Non Allelic Homologous Recombination KW - Nuclear receptor binding SET Domain protein 1 KW - Overgrowth KW - PGCP KW - Plasma Glutamate Carboxypeptidase KW - TDR KW - TOP3B KW - Typically Deleted Region KW - UPF3 regulator of nonsense transcripts homolog B KW - UPF3B SP - 213 EP - 6 JF - Gene JO - Gene VL - 536 IS - 1 N2 - 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. SN - 1879-0038 UR - https://www.unboundmedicine.com/medline/citation/24315824/Microduplications_in_22q11_2_and_8q22_1_associated_with_mild_mental_retardation_and_generalized_overgrowth_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0378-1119(13)01577-1 DB - PRIME DP - Unbound Medicine ER -