The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients
Abstract
:1. Introduction
2. Materials and Methods
3. Results
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Pt No. | Gender | Age at Presentation | Dysmorphic Features | ID/DD (IQ/DQ) | Speech Delay | ASD | Feeding Difficulties | Hypotonia | Epilepsy | EEG Anomalies | Brain IRM Anomalies |
---|---|---|---|---|---|---|---|---|---|---|---|
1. | M | 26 months → 9 years | − | + (51 → 45) | + | + | − | + | − | + | + |
2. | M | 15 years | − | + (40) | + | + | − | + | + | + | + |
3. | M | 2 yrs 4 months | − | + (39) | + | + | − | + | − | NA | − |
4. | F | 4 years | − | − (73) | + | + | − | + | − | NA | NA |
5. | M | 10 years | − | − (90) | + | + | − | + | − | + | − |
Patient No. | Size | ISCN Formula | OMIM Genes |
---|---|---|---|
1. | 537,280 | arr[GRCh37] 15q13.3(31864691x2,31972646_32509926x3,32631629x2) | OTUD7A, CHRNA7 |
2. | 378,087 | arr[GRCh37] 15q13.3(31972706x2,32065000_32443078x3,32445199x2) | OTUD7A, CHRNA7 |
3. | 459,630 | arr[GRCh37] 15q13.3(32021793x2,32051233_32510863x3,32914080x2) | OTUD7A, CHRNA7 |
4. | 459,630 | arr[GRCh37] 15q13.3(32021793x2,32051233_32510863x3,32914080x2) | OTUD7A, CHRNA7 |
5. | 459,630 | arr[GRCh37] 15q13.3(32021793x2,32051233_32510863x3,32914080x2) | OTUD7A, CHRNA7 |
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Budisteanu, M.; Papuc, S.M.; Streata, I.; Cucu, M.; Pirvu, A.; Serban-Sosoi, S.; Erbescu, A.; Andrei, E.; Iliescu, C.; Ioana, D.; et al. The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients. Genes 2021, 12, 1025. https://doi.org/10.3390/genes12071025
Budisteanu M, Papuc SM, Streata I, Cucu M, Pirvu A, Serban-Sosoi S, Erbescu A, Andrei E, Iliescu C, Ioana D, et al. The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients. Genes. 2021; 12(7):1025. https://doi.org/10.3390/genes12071025
Chicago/Turabian StyleBudisteanu, Magdalena, Sorina Mihaela Papuc, Ioana Streata, Mihai Cucu, Andrei Pirvu, Simona Serban-Sosoi, Alina Erbescu, Emanuela Andrei, Catrinel Iliescu, Doina Ioana, and et al. 2021. "The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients" Genes 12, no. 7: 1025. https://doi.org/10.3390/genes12071025
APA StyleBudisteanu, M., Papuc, S. M., Streata, I., Cucu, M., Pirvu, A., Serban-Sosoi, S., Erbescu, A., Andrei, E., Iliescu, C., Ioana, D., Severin, E., Ioana, M., & Arghir, A. (2021). The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients. Genes, 12(7), 1025. https://doi.org/10.3390/genes12071025