| Category | Finding (concise) | Quantitative detail | Source (first author year) | Publication date (month year) | URL |
|---|---|---:|---|---|---|
| Identifiers | Disease identifier | OMIM **608636** for chromosome 15q11-q13 duplication syndrome | Bisba 2024 (pqac-00000002) | Oct 2024 | https://doi.org/10.3390/genes15101304 |
| Genetics | Common inheritance pattern among literature cases | Of carriers inheriting from a parent, **62.96% maternal** and **37.04% paternal**; **80.20%** inherited from a parent overall | Bisba 2024 (pqac-00000020) | Oct 2024 | https://doi.org/10.3390/genes15101304 |
| Genetics | Postnatal inheritance totals | Table 6 totals: **48 maternal, 29 paternal, 17 de novo, 8 unknown** | Bisba 2024 (pqac-00000020) | Oct 2024 | https://doi.org/10.3390/genes15101304 |
| Genetics | Prenatal inheritance totals | Table 7 totals: **3 maternal, 1 paternal, 3 de novo, 1 unknown** | Bisba 2024 (pqac-00000020) | Oct 2024 | https://doi.org/10.3390/genes15101304 |
| Epidemiology | Population incidence from genome-wide NIPS | **23/333,187 = 0.0069%** detected 15q11-q13 duplications | Parijs 2024 (pqac-00000014, pqac-00000022) | Apr 2024 | https://doi.org/10.1038/s41431-023-01336-6 |
| Diagnostics | Positive predictive value of NIPS detection | **PPV 100%** for this CNV in followed cases | Parijs 2024 (pqac-00000022) | Apr 2024 | https://doi.org/10.1038/s41431-023-01336-6 |
| Epidemiology | Estimated general prevalence cited in review | Rare congenital disease; cited prevalence **1 in 30,000 to 1 in 60,000 children** worldwide | Bisba 2024 (pqac-00000020) | Oct 2024 | https://doi.org/10.3390/genes15101304 |
| Phenotypes | Postnatal phenotype distribution: composite phenotype | **62/115 = 53.91%** | Bisba 2024 Table 2 (pqac-00000021) | Oct 2024 | https://doi.org/10.3390/genes15101304 |
| Phenotypes | Postnatal phenotype distribution: normal | **15/115 = 13.04%** | Bisba 2024 Table 2 (pqac-00000021) | Oct 2024 | https://doi.org/10.3390/genes15101304 |
| Phenotypes | Postnatal phenotype distribution: developmental delay | **15/115 = 13.04%** | Bisba 2024 Table 2 (pqac-00000021) | Oct 2024 | https://doi.org/10.3390/genes15101304 |
| Phenotypes | Postnatal phenotype distribution: ASD | **8/115 = 6.95%** | Bisba 2024 Table 2 (pqac-00000021) | Oct 2024 | https://doi.org/10.3390/genes15101304 |
| Phenotypes | Postnatal phenotype distribution: epilepsy | **2/115 = 1.74%** | Bisba 2024 Table 2 (pqac-00000021) | Oct 2024 | https://doi.org/10.3390/genes15101304 |
| Phenotypes | Postnatal phenotype distribution: behavioral problems | **3/115 = 2.61%** | Bisba 2024 Table 2 (pqac-00000021) | Oct 2024 | https://doi.org/10.3390/genes15101304 |
| Phenotypes | Postnatal phenotype distribution: congenital heart defects | **2/115 = 1.74%** | Bisba 2024 Table 2 (pqac-00000021) | Oct 2024 | https://doi.org/10.3390/genes15101304 |
| Phenotypes | Prenatal phenotype distribution: normal | **10/14 = 71.43%** | Bisba 2024 Table 3 (pqac-00000021) | Oct 2024 | https://doi.org/10.3390/genes15101304 |
| Phenotypes | Prenatal phenotype distribution: congenital heart defects | **3/14 = 21.43%** | Bisba 2024 Table 3 (pqac-00000021) | Oct 2024 | https://doi.org/10.3390/genes15101304 |
| Phenotypes | Prenatal phenotype distribution: IUGR | **1/14 = 7.14%** | Bisba 2024 Table 3 (pqac-00000021) | Oct 2024 | https://doi.org/10.3390/genes15101304 |
| Genetics | Parent-of-origin effect in population screening | Maternal and paternal duplications occurred in approximately equal numbers in screening, but maternal duplications were consistently associated with phenotype; **7 fetuses** inherited the duplication among **14** amniocenteses with follow-up | Parijs 2024 (pqac-00000022) | Apr 2024 | https://doi.org/10.1038/s41431-023-01336-6 |
| Phenotypes | Autism burden reported in mechanistic study | Autism reported in **77%–100%** of affected individuals | Elamin 2023 (pqac-00000009) | Apr 2023 | https://doi.org/10.1016/j.stemcr.2023.02.002 |
| Phenotypes | Seizure burden in idic(15) | Seizures in **63%** of individuals with idic(15) | Elamin 2023 (pqac-00000009) | Apr 2023 | https://doi.org/10.1016/j.stemcr.2023.02.002 |
| Biomarkers | Human EEG beta biomarker cohort size | **N = 41** children, age **9–189 months** | Saravanapandian 2020 (pqac-00000012) | Aug 2020 | https://doi.org/10.1186/s11689-020-09326-1 |
| Biomarkers | Beta biomarker stability | Beta power **ICC = 0.93**; beta peak frequency **ICC = 0.92** | Saravanapandian 2020 (pqac-00000012) | Aug 2020 | https://doi.org/10.1186/s11689-020-09326-1 |
| Biomarkers | Clinical reproducibility of EEG biomarker | Research vs clinical EEG beta power **ICC = 0.94** | Saravanapandian 2020 (pqac-00000012) | Aug 2020 | https://doi.org/10.1186/s11689-020-09326-1 |
| Biomarkers | Clinical correlates of beta peak frequency | Epilepsy status **R² = 0.11, p = 0.038**; daily living skills **R² = 0.17, p = 0.01** | Saravanapandian 2020 (pqac-00000012) | Aug 2020 | https://doi.org/10.1186/s11689-020-09326-1 |
| Biomarkers | Sleep EEG abnormalities in children | Dup15q **n = 15** vs controls **n = 12**; elevated beta power, reduced spindle density, reduced/absent SWS | Saravanapandian 2021 (pqac-00000013) | Aug 2021 | https://doi.org/10.1186/s13229-021-00460-8 |
| Biomarkers | Mouse sleep EEG translational study size | **35 mice** total after exclusions; matDp/+ **9**, WT **8**; patDp/+ **6**, WT **4**; Ube3a OE **5**, WT **3** | Saravanapandian 2024 (pqac-00000010) | Jul 2024 | https://doi.org/10.1186/s11689-024-09556-7 |
| Biomarkers | Mouse sleep EEG findings | Maternal duplication mice mirrored elevated beta oscillations; matDp/+ and Ube3a OE had reduced sleep-onset latency; **no alterations in NREM sleep** in any of the 3 mouse groups | Saravanapandian 2024 (pqac-00000010) | Jul 2024 | https://doi.org/10.1186/s11689-024-09556-7 |
| Diagnostics | Recommended/used genomic methods in clinical literature | Array-CGH/Affymetrix CytoScan 750K used in large 2024 review cohort; MLPA suggested as cost- and time-effective first-line test in some familial interstitial cases | Bisba 2024; Levandivska 2023 (pqac-00000002, pqac-00000000) | Oct 2024; Jun 2023 | https://doi.org/10.3390/genes15101304; https://doi.org/10.32345/2664-4738.2.2023.08 |
| Data infrastructure | LADDER database purpose | Database launched to harmonize data across registries, clinic visits, trials, and studies for AS and dup15q; started collaboration in **2019** | Potter 2024 (pqac-00000019) | Jan 2024 | https://doi.org/10.1177/26330040241254122 |
| Trials | Retinoic acid pilot trial | **NCT05281965**; Early Phase 1; randomized crossover; estimated enrollment **20**; ages **6–18 years** | ClinicalTrials.gov / Feng et al. listing (pqac-00000023) | Mar 2022 posting | https://clinicaltrials.gov/study/NCT05281965 |
| Trials | Basmisanil phase 2 trial | **NCT05307679**; Phase 2; randomized double-blind placebo-controlled; actual enrollment **7**; ages **2–14 years**; terminated for sponsor decision not safety | ClinicalTrials.gov / Roche listing (pqac-00000024) | Apr 2022 posting; updated Nov 2025 | https://clinicaltrials.gov/study/NCT05307679 |
| Trials | Soticlestat ARCADE study | **NCT03694275**; Phase 2; open-label/non-randomized; actual enrollment **20**; ages **2–55 years**; maintenance endpoint weeks **9–20** | ClinicalTrials.gov / Takeda listing (pqac-00000025, pqac-00000026) | Oct 2018 posting; updated May 2022 | https://clinicaltrials.gov/study/NCT03694275 |
| Trials | All-trans retinoic acid efficacy study | **NCT07079696**; Phase 2; single-group; estimated enrollment **90**; ages **3–7 years**; treatment duration **18 months** | ClinicalTrials.gov / Zhejiang University listing (pqac-00000027) | Jul 2025 posting | https://clinicaltrials.gov/study/NCT07079696 |


*Table: This table compiles the main identifiers, epidemiology, inheritance patterns, phenotype frequencies, biomarker statistics, diagnostic approaches, and active/recent clinical trials for 15q11q13 microduplication (dup15q) syndrome from the cited evidence. It is useful as a compact reference for knowledge-base population and evidence tracing.*