ORPHA:65286
3q29 microdeletion syndrome
Also known as: 3q subtelomere deletion syndrome · 3qter deletion · Del(3)(q29) · Monosomy 3q29 · Monosomy 3qter
Publications
87
49.6th percentile
Trials
0
Interventional, condition-specific
Researchers
815
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and features.
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:0012269
- MeSH:C567184
- OMIM:609425
- UMLS:C2674949
Additional Mondo synonyms (3)
chromosome 3q29 microdeletion syndrome, isolated cases · monosomy 3q29 · monosomy 3qter
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
87 matched papers (40 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
87
87 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.
87 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).
40 in the last 10 years · high confidence · 49.6th percentile (publications denominator)
Phrase hits: 86 · MeSH hits: 1
Who's working on it?
815
Distinct author names in 87 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Eichler EE4 papers · 2022
University of Washington School of Medicine, Howard Hughes Medical Institute, Seattle, WA 98195, USA.
Papers in Europe PMC - 02Zhang B4 papers · 2026
Changzhou Maternal and Child Health Care Hospital, No.16 Ding Xiang Road, Changzhou, 213003, Jiangsu, China. icespringl@163.com.
Papers in Europe PMC - 03de Vries BB3 papers · 2005
Department of Human Genetics, UMC, St Radboud Hospital, Nijmegen, The Netherlands. b.devries@antrg.umcn.nl
Papers in Europe PMC - 04Liu J3 papers · 2022
Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou 510010, China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 510010, China;
Papers in Europe PMC - 05Yu B3 papers · 2022
Changzhou Maternal and Child Health Care Hospital, No.16 Ding Xiang Road, Changzhou, 213003, Jiangsu, China. binyu@njmu.edu.cn.
Papers in Europe PMC - 06Antonacci F2 papers · 2022
Department of Genome Sciences, Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
Papers in Europe PMC - 07Boldt K2 papers · 2024
Institute for Ophthalmic Research, Eberhard Karl University of Tübingen, Tübingen, Germany.
Papers in Europe PMC - 08Casalini C2 papers · 2022
Department of Developmental Neuroscience, IRCCS "Stella Maris Foundation" Scientific Institute, 56128 Pisa, Italy.
Papers in Europe PMC - 09Chamlali M2 papers · 2024
Department of Biology, University of Copenhagen, Copenhagen, Denmark.
Papers in Europe PMC - 10Chen B2 papers · 2019
Department of Obstetrics and Gynecology, the first affiliated hospital of Air Force Medical University, Xi'an, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"3q29 microdeletion syndrome" OR "3q subtelomere deletion syndrome" OR "3qter deletion" OR "Del(3)(q29)" OR "Monosomy 3q29" OR "Monosomy 3qter" OR "chromosome 3q29 microdeletion syndrome, isolated cases"
MeSH descriptor terms unioned into the query: Chromosome 3q29 Deletion Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"3q29 microdeletion syndrome" OR "3q subtelomere deletion syndrome" OR "3qter deletion" OR "Del(3)(q29)" OR "Monosomy 3q29" OR "Monosomy 3qter" OR "chromosome 3q29 microdeletion syndrome, isolated cases" OR "Chromosome 3q29 Deletion Syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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 2026-07-27T01:17:24.153Z