A comprehensive list of human microdeletion and microduplication syndromes

BMC Genom Data. 2022 Nov 26;23(1):82. doi: 10.1186/s12863-022-01093-3.


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.

Keywords: Copy number variant; Genomic disorders; Microdeletion; Microduplication; Microduplication/microdeletion disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Autism Spectrum Disorder* / diagnosis
  • DNA Copy Number Variations / genetics
  • Genomics
  • Humans
  • Intellectual Disability* / diagnosis