17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability
The chromosome 17q21.31 microduplication syndrome is a rare genetic syndrome presenting with craniofacial dysmorphisms, psychomotor delay, microcephaly, behavioral disorders, and poor social interaction. Only ten patients have been reported in the literature until today. All patients share some spec...
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| Format: | Article |
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MDPI AG
2023-07-01
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| Series: | Reports |
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| Online Access: | https://www.mdpi.com/2571-841X/6/3/30 |
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| author | Federica Saia Adriana Prato Caterina Angela Florio Vincenzo Paolo Cutrone Renata Rizzo |
| author_facet | Federica Saia Adriana Prato Caterina Angela Florio Vincenzo Paolo Cutrone Renata Rizzo |
| author_sort | Federica Saia |
| collection | DOAJ |
| description | The chromosome 17q21.31 microduplication syndrome is a rare genetic syndrome presenting with craniofacial dysmorphisms, psychomotor delay, microcephaly, behavioral disorders, and poor social interaction. Only ten patients have been reported in the literature until today. All patients share some specific features, including psychomotor delay, behavioral disorders, and autism spectrum disorder (ASD). Here, a new case of this syndrome is reported in an 11-year-old Caucasian child who presented the classical clinical features of the 17q21.31 microduplication syndrome in association with new clinical characteristics previously unreported. The Array-Comparative Genomic Hybridization (aCGH) revealed a partial duplication of the long arm of chromosome 17. A literature review of previously studied patients with 17q21.31 microduplication syndrome is reported. |
| first_indexed | 2024-03-10T22:03:53Z |
| format | Article |
| id | doaj.art-01c776534aa94bf38963892b8b380c6d |
| institution | Directory Open Access Journal |
| issn | 2571-841X |
| language | English |
| last_indexed | 2024-03-10T22:03:53Z |
| publishDate | 2023-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Reports |
| spelling | doaj.art-01c776534aa94bf38963892b8b380c6d2023-11-19T12:50:38ZengMDPI AGReports2571-841X2023-07-01633010.3390/reports603003017q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual DisabilityFederica Saia0Adriana Prato1Caterina Angela Florio2Vincenzo Paolo Cutrone3Renata Rizzo4Child and Adolescent Neurology and Psychiatric Section, Department of Clinical and Experimental Medicine, Catania University, 95124 Catania, ItalyChild and Adolescent Neurology and Psychiatric Section, Department of Clinical and Experimental Medicine, Catania University, 95124 Catania, ItalyChild and Adolescent Neurology and Psychiatric Section, Department of Clinical and Experimental Medicine, Catania University, 95124 Catania, ItalyChild and Adolescent Neurology and Psychiatric Section, Department of Clinical and Experimental Medicine, Catania University, 95124 Catania, ItalyChild and Adolescent Neurology and Psychiatric Section, Department of Clinical and Experimental Medicine, Catania University, 95124 Catania, ItalyThe chromosome 17q21.31 microduplication syndrome is a rare genetic syndrome presenting with craniofacial dysmorphisms, psychomotor delay, microcephaly, behavioral disorders, and poor social interaction. Only ten patients have been reported in the literature until today. All patients share some specific features, including psychomotor delay, behavioral disorders, and autism spectrum disorder (ASD). Here, a new case of this syndrome is reported in an 11-year-old Caucasian child who presented the classical clinical features of the 17q21.31 microduplication syndrome in association with new clinical characteristics previously unreported. The Array-Comparative Genomic Hybridization (aCGH) revealed a partial duplication of the long arm of chromosome 17. A literature review of previously studied patients with 17q21.31 microduplication syndrome is reported.https://www.mdpi.com/2571-841X/6/3/3017q21.31 microduplicationgenetic syndromepsychomotor delayintellectual disabilityautism spectrum disorder |
| spellingShingle | Federica Saia Adriana Prato Caterina Angela Florio Vincenzo Paolo Cutrone Renata Rizzo 17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability Reports 17q21.31 microduplication genetic syndrome psychomotor delay intellectual disability autism spectrum disorder |
| title | 17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability |
| title_full | 17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability |
| title_fullStr | 17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability |
| title_full_unstemmed | 17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability |
| title_short | 17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability |
| title_sort | 17q21 31 microduplication syndrome in a patient with autism spectrum disorder macrocephaly and intellectual disability |
| topic | 17q21.31 microduplication genetic syndrome psychomotor delay intellectual disability autism spectrum disorder |
| url | https://www.mdpi.com/2571-841X/6/3/30 |
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