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Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth |
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| Authors: | Marina Tarsitano Carlo Ceglia Antonio Novelli Anna Capalbo Barbara Lombardo Lucio Pastore Gennaro Fioretti Laura Vicari Maria Antonietta Pisanti Patrizia Friso Maria Luigia Cavaliere |
| Affiliation: | 1. CEINGE Advanced Biotechnology, S.c.a.r.l., Naples, Italy;2. Mendel Laboratory, Casa Sollievo della Sofferenza IRCCS, Viale Regina Margherita 261, 00198 Rome, Italy;3. Department Biochemistry and Medical Biotechnology, University of Naples “Federico II”, Naples, Italy;4. Service of Medical Genetics, Cardarelli Hospital, Naples, Italy |
| 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 6 Mb. |
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