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| Status |
Public on Oct 30, 2025 |
| Title |
Complex DNA Structural Variant on Chromosome 2 in a Pediatric Patient with Development Delay and Congenital Malformation |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by array
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| Summary |
The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a patient with short stature, tetralogy of Fallot, and multiple congenital anomalies. Initial array comparative genomic hybridization (aCGH) revealed a de novo complex genomic rearrangement (CGR) spanning 2q31 in proband characterized as a triplication (TRP)-duplication (DUP)-triplication (TRP). Subsequent analysis applying combined next-generation sequencing methodologies including whole-genome sequencing (WGS) short-reads, PacBio WGS long-reads, and optical genome mapping (OGM) indicated two additional duplications on each end of the rearrangement, consisting of DUP-TRP-DUP-TRP-DUP. This involves three breakpoint junctions, of which each were resolved down to a nucleotide level. This genomic catastrophic event includes many disease-causing genes, and analysis of each gene and its known disorders was required in order to connect genotype to phenotype in a unique CNV.
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| Overall design |
This work was designed to determine the structure of copy number variants on chr2
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| Contributor(s) |
Bengtsson J, Lun M, Carvalho C |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
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| Submission date |
May 01, 2025 |
| Last update date |
Oct 30, 2025 |
| Contact name |
Jesse Bengtsson |
| E-mail(s) |
jbengtssonpnri@gmail.com, jbengtsson@pnri.org, clun@pnri.org
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| Organization name |
Pacific Northwest Research Institute
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| Street address |
720 Broadway
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| City |
Seattle |
| State/province |
WA |
| ZIP/Postal code |
98122 |
| Country |
USA |
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| Platforms (1) |
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| Samples (3) |
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| Relations |
| BioProject |
PRJNA1257823 |
