A comprehensive list of human microdeletion and microduplication syndromes
Abstract Objective The phenotypic spectrum of human microdeletion and microduplication syndromes (MMS) is heterogeneous but often involves intellectual disability, autism spectrum disorders, dysmorphic features and/or multiple congenital anomalies. While the common recurrent copy number variants (CN...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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BMC
2022-11-01
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| Series: | BMC Genomic Data |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12863-022-01093-3 |
| _version_ | 1797986619871985664 |
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| author | Alyssa S. Wetzel Benjamin W. Darbro |
| author_facet | Alyssa S. Wetzel Benjamin W. Darbro |
| author_sort | Alyssa S. Wetzel |
| collection | DOAJ |
| description | Abstract Objective The phenotypic spectrum of human microdeletion and microduplication syndromes (MMS) is heterogeneous but often involves intellectual disability, autism spectrum disorders, dysmorphic features and/or multiple congenital anomalies. While the common recurrent copy number variants (CNVs) which underlie these MMS have been well-studied, the expansion of clinical genomic testing has led to the identification of many rare non-recurrent MMS. To date, hundreds of unique MMS have been reported in the medical literature, and no single resource exists which compiles all these MMS in one location. This comprehensive list of MMS will aid further study of CNV disorders as well as serve as a resource for clinical laboratories performing diagnostic CNV testing. Data description Here we provide a comprehensive list of MMS which have been reported in the medical literature to date. This list is sorted by genomic location, and for each MMS, we provide a list of publications for referral, as well as the consensus coordinates, representative region, shortest regions of overlap (SRO), and/or subregions where applicable. |
| first_indexed | 2024-04-11T07:35:57Z |
| format | Article |
| id | doaj.art-11d5a9290fc4459481bcf3b716e9e31c |
| institution | Directory Open Access Journal |
| issn | 2730-6844 |
| language | English |
| last_indexed | 2024-04-11T07:35:57Z |
| publishDate | 2022-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Genomic Data |
| spelling | doaj.art-11d5a9290fc4459481bcf3b716e9e31c2022-12-22T04:36:44ZengBMCBMC Genomic Data2730-68442022-11-012311310.1186/s12863-022-01093-3A comprehensive list of human microdeletion and microduplication syndromesAlyssa S. Wetzel0Benjamin W. Darbro1Stead Family Department of Pediatrics, University of Iowa Hospitals and ClinicsStead Family Department of Pediatrics, University of Iowa Hospitals and ClinicsAbstract Objective The phenotypic spectrum of human microdeletion and microduplication syndromes (MMS) is heterogeneous but often involves intellectual disability, autism spectrum disorders, dysmorphic features and/or multiple congenital anomalies. While the common recurrent copy number variants (CNVs) which underlie these MMS have been well-studied, the expansion of clinical genomic testing has led to the identification of many rare non-recurrent MMS. To date, hundreds of unique MMS have been reported in the medical literature, and no single resource exists which compiles all these MMS in one location. This comprehensive list of MMS will aid further study of CNV disorders as well as serve as a resource for clinical laboratories performing diagnostic CNV testing. Data description Here we provide a comprehensive list of MMS which have been reported in the medical literature to date. This list is sorted by genomic location, and for each MMS, we provide a list of publications for referral, as well as the consensus coordinates, representative region, shortest regions of overlap (SRO), and/or subregions where applicable.https://doi.org/10.1186/s12863-022-01093-3Copy number variantMicrodeletionMicroduplicationMicroduplication/microdeletion disordersGenomic disorders |
| spellingShingle | Alyssa S. Wetzel Benjamin W. Darbro A comprehensive list of human microdeletion and microduplication syndromes BMC Genomic Data Copy number variant Microdeletion Microduplication Microduplication/microdeletion disorders Genomic disorders |
| title | A comprehensive list of human microdeletion and microduplication syndromes |
| title_full | A comprehensive list of human microdeletion and microduplication syndromes |
| title_fullStr | A comprehensive list of human microdeletion and microduplication syndromes |
| title_full_unstemmed | A comprehensive list of human microdeletion and microduplication syndromes |
| title_short | A comprehensive list of human microdeletion and microduplication syndromes |
| title_sort | comprehensive list of human microdeletion and microduplication syndromes |
| topic | Copy number variant Microdeletion Microduplication Microduplication/microdeletion disorders Genomic disorders |
| url | https://doi.org/10.1186/s12863-022-01093-3 |
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