Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3
This is the first report associating interstitial deletions in the 10q21.1q21.3 locus with neurodevelopmental delay, musculoskeletal abnormalities and dysmorphic features. Our findings highlight the clinical significance of this deleted region and suggest possible mechanisms underlying the observed pathological phenotypes.
Authors
- Scott C. Smith (ORCID: https://orcid.org/0000-0003-2938-6202)
- Dibyendu Dutta (ORCID: https://orcid.org/0009-0003-8537-2515)
- Joseph T.C. Shieh
- Michel Raymond (ORCID: https://orcid.org/0000-0002-1714-6984)
- Enrique Montoya
- Jennifer O. Black (ORCID: https://orcid.org/0000-0002-2181-9344)
- Christina B. Sheedy
- Ria Garg (ORCID: https://orcid.org/0000-0003-3980-4981)
- Thomas Andrew Burrow
- Bobbi McGivern
Institutions
- University of California, San Francisco (US)
- SUNY Upstate Medical University (US)
- University of Arkansas for Medical Sciences (US)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-02-04
- DOI
- https://doi.org/10.1136/jmg-2024-110367
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00