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ORPHA:1727

22q11.2 duplication syndrome

high confidenceDisorder

Also known as: 22q11.2 microduplication syndrome · Dup(22)(q11) · Duplication 22q11.2 · Trisomy 22q11.2

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

362

82.3th percentile

Trials

0

Interventional, condition-specific

Researchers

1,307

Distinct authors in sample

Gene link

—

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

A rare chromosomal anomaly characterized by an extremely variable clinical and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (6)

22q11 duplication syndrome · chromosome 22q11.2 microduplication syndrome · chromosome 22q11.2 microduplication syndrome, isolated cases · dup(22)(q11) · duplication 22q11.2 · trisomy 22q11.2

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    362 matched papers (257 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. 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?

362

362 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.

362 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).

257 in the last 10 years · high confidence · 82.3th percentile (publications denominator)

Phrase hits: 362 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,307

Distinct author names in 200 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.

  1. 01
    Huang H14 papers · 2025

    Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou 350001, Fujian, China.

    Papers in Europe PMC
  2. 02
    Wang Y12 papers · 2025

    Pediatric Intensive Care Unit, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PRChina. Electronic address: ywang_picu@shsmu.edu.cn.

    Papers in Europe PMC
  3. 03
    Xu L12 papers · 2024

    Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou 350001, Fujian, China.

    Papers in Europe PMC
  4. 04
    Wang X9 papers · 2026

    Department of Ultrasound, Jiangxi Maternal and Child Health Hospital, No. 318, Bayi Avenue, Nanchang, China.

    Papers in Europe PMC
  5. 05
    Cai M8 papers · 2025

    Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou 350001, Fujian, China.

    Papers in Europe PMC
  6. 06
    Lin N8 papers · 2024

    Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou 350001, Fujian, China.

    Papers in Europe PMC
  7. 07
    Liu Y8 papers · 2026

    Medical Genetic Center, Jiangxi Maternal and Child Health Hospital, No. 318, Bayi Avenue, Nanchang, China. lyq0914@126.com.

    Papers in Europe PMC
  8. 08
    Wang J8 papers · 2025

    Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China. hhwj_123@163.com.

    Papers in Europe PMC
  9. 09
    Wu X8 papers · 2024

    Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.

    Papers in Europe PMC
  10. 10
    Li Y7 papers · 2023

    Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, 250022, 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 2026-07-26

This 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.

"22q11.2 duplication syndrome" OR "22q11.2 microduplication syndrome" OR "Dup(22)(q11)" OR "Duplication 22q11.2" OR "Trisomy 22q11.2" OR "22q11 duplication syndrome" OR "chromosome 22q11.2 microduplication syndrome" OR "chromosome 22q11.2 microduplication syndrome, isolated cases"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"22q11.2 duplication syndrome" OR "22q11.2 microduplication syndrome" OR "Dup(22)(q11)" OR "Duplication 22q11.2" OR "Trisomy 22q11.2" OR "22q11 duplication syndrome" OR "chromosome 22q11.2 microduplication syndrome" OR "chromosome 22q11.2 microduplication syndrome, isolated cases" OR "partial duplication of the long arm of chromosome 22" OR "syndrome caused by partial chromosomal duplication"

Recall-expansion terms: partial duplication of the long arm of chromosome 22, syndrome caused by partial chromosomal duplication

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-26T18:02:58.960Z