Construction of a precise molecular typing system for 22q11.2 duplication syndrome

Status

Active, not recruiting

Phases

Early Phase 1

Study type

Observational

Source

ChiCTR

Registry ID

ChiCTR2600123158

Enrollment

Unknown

Registered

2026-04-22

Start date

2026-05-01

Completion date

Unknown

Last updated

2026-04-27

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

22q11. 2 duplication syndrome

Interventions

Gold Standard:Chromosome microarray chip or exome sequencing

Index test:CycloneSEQ-G400-ER,22q11.2 duplication

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Subjects confirmed to carry 22q11.2 dup through chromosomal microarray analysis or whole exome sequencing detection;

Exclusion criteria

Exclusion criteria: 1. Do not carry the 22q11.2 dup; 2. Carrying 22q11.2 dup and other genetic test abnormalities; 3. There are other serious diseases (such as malignant tumors, HIV); 4. The clinical data is incomplete; 5. Informed consent cannot be obtained;

Design outcomes

Primary

Measure	Time frame
The spatial structure of 22q11.2 dup;Repeat sequence breakpoints and insertion positions;Variations such as insertion, inversion, and homologous sequences that are difficult to identify by traditional techniques;	—

Countries

China

Contacts

Public ContactWang Jian

The international peace maternity and child health hospital

labwangjian@126.com+86 21 64070434

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: May 1, 2026