ORPHA:3306
Inverted duplicated chromosome 15 syndrome
Also known as: Duplication/inversion 15q11 · Inv dup (15) syndrome · Isodicentric chromosome 15 syndrome · Non-distal tetrasomy 15q · Non-telomeric tetrasomy 15q · idic (15) syndrome
Publications
418
68th percentile
Trials
1
Interventional, condition-specific
Researchers
1,267
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central , global and intellectual deficit, autistic behavior, and .
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018027
- MeSH:C580205
- UMLS:C3711376
Additional Mondo synonyms (8)
Duplication/inversion type 15q11 · Inv dup(15) · Invdup(15) · Isodicentric 15 chromosome · duplication/inversion 15q11 · idic(15) · non-distal tetrasomy 15q · non-telomeric tetrasomy 15q
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
418 matched papers (109 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
418
418 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
418 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
109 in the last 10 years · high confidence · 68th percentile (publications denominator)
Phrase hits: 418 · MeSH hits: 0
Who's working on it?
1,267
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Liehr T12 papers · 2025
Institute of Human Genetics and Anthropology, Jena, Germany. i8lith@mti.uni-jena.de
Papers in Europe PMC - 02Reiter LT7 papers · 2025
1Department of Neurology, The University of Tennessee Health Science Center, 855 Monroe Ave., Link 415, Memphis, TN 38163 USA.
Papers in Europe PMC - 03Battaglia A6 papers · 2021
Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.
Papers in Europe PMC - 04Schanen NC6 papers · 2015
Department of Psychiatry, Nemours Biomedical Research, duPont Hospital for Children, Wilmington, DE, USA.
Papers in Europe PMC - 05Cook EH5 papers · 2020
Department of Psychiatry, University of Illinois at Chicago, Chicago, IL, USA.
Papers in Europe PMC - 06Crolla JA5 papers · 2003Papers in Europe PMC
- 07Wegiel J5 papers · 2015
Department of Developmental Neurobiology, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.
Papers in Europe PMC - 08Chamberlain SJ4 papers · 2023
Department of Genetics & Developmental Biology & Stem Cell Institute, University of Connecticut, Farmington, CT 06030, USA.
Papers in Europe PMC - 09Striano P4 papers · 2024
Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "G. Gaslini", Genoa, Italy. strianop@gmail.com.
Papers in Europe PMC - 10Beghi E3 papers · 2020
Laboratory of Neurological Disorders, Department of Neuroscience, IRCCS-Istituto di Ricerche Farmacologiche "Mario Negri", Milan, Italy. Electronic address: ettore.beghi@marionegri.it.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Inverted duplicated chromosome 15 syndrome" OR "Duplication/inversion 15q11" OR "Inv dup (15) syndrome" OR "Isodicentric chromosome 15 syndrome" OR "Non-distal tetrasomy 15q" OR "Non-telomeric tetrasomy 15q" OR "idic (15) syndrome" OR "Duplication/inversion type 15q11" OR "Inv dup(15)" OR "Invdup(15)" OR "Isodicentric 15 chromosome" OR "idic(15)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Inverted duplicated chromosome 15 syndrome" OR "Duplication/inversion 15q11" OR "Inv dup (15) syndrome" OR "Isodicentric chromosome 15 syndrome" OR "Non-distal tetrasomy 15q" OR "Non-telomeric tetrasomy 15q" OR "idic (15) syndrome" OR "Duplication/inversion type 15q11" OR "Inv dup(15)" OR "Invdup(15)" OR "Isodicentric 15 chromosome" OR "idic(15)"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T22:48:41.170Z