Chromosome 22q11.2 Microduplication Syndrome

Also Known As:

22q11.2 Duplication; Chromosome 22q11.2 Duplication Syndrome

Networked: 5 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - 22q11 Deletion Syndrome: 43
      - DiGeorge Syndrome: 680
        Chromosome 22q11.2 Microduplication Syndrome: 5
Cells
- Cellular Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        21-22 and Y Human Chromosomes
        Pair 22 Human Chromosomes
        Chromosome 22q11.2 Microduplication Syndrome: 5
Genetic Phenomena
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - 22q11 Deletion Syndrome: 43
      - DiGeorge Syndrome: 680
        Chromosome 22q11.2 Microduplication Syndrome: 5
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - 22q11 Deletion Syndrome: 43
      - DiGeorge Syndrome: 680
        Chromosome 22q11.2 Microduplication Syndrome: 5
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - 22q11 Deletion Syndrome: 43
      - DiGeorge Syndrome: 680
        Chromosome 22q11.2 Microduplication Syndrome: 5
Hemic and Lymphatic Diseases: 6
- Lymphatic Diseases: 92
  - Lymphatic Abnormalities: 46
    - 22q11 Deletion Syndrome: 43
      - DiGeorge Syndrome: 680
        Chromosome 22q11.2 Microduplication Syndrome: 5
Endocrine System Diseases: 968
- Parathyroid Diseases: 240
  - Hypoparathyroidism: 2755
    - 22q11 Deletion Syndrome: 43
      - DiGeorge Syndrome: 680
        Chromosome 22q11.2 Microduplication Syndrome: 5
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Chromosome Aberrations: 11361
    - Chromosome Duplication: 167
      - Chromosome 22q11.2 Microduplication Syndrome: 5

Related Diseases

1.	Trisomy (Trisomies)
2.	Down Syndrome (Down's Syndrome)

Experts

1.	Binenbaum, Gil: 1 article (01/2016)
2.	Dawson, Lindsay: 1 article (01/2016)
3.	Forbes, Brian J: 1 article (01/2016)
4.	McDonald-McGinn, Donna M: 1 article (01/2016)
5.	Wootton, Georgia: 1 article (01/2016)
6.	Zackai, Elaine: 1 article (01/2016)
7.	Hu, Yali: 1 article (04/2009)
8.	Mo, Xuming: 1 article (04/2009)
9.	Sheng, Min: 1 article (04/2009)
10.	Wang, Dongjing: 1 article (04/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chromosome 22q11.2 Microduplication Syndrome:

1.	dichlorobis(azomycin)platinum IIIBA 01/01/2023 - "The objective of the study was to perform the prenatal diagnosis of two foetuses with 22q11.2 duplication for 2.5 Mb after noninvasive prenatal testing (NIPT), and to explore the prenatal diagnosis and genetic characteristics of these foetuses. "
2.	Pregnancy-Associated Plasma Protein-A (PAPP-A)IBA 08/29/2023 - "The cFTS markers in pregnancies with a classic 22q11.2 duplication resembles the common trisomies with decreased levels of PAPP-A. "
3.	Mydriatics (Cycloplegics)IBA 01/01/2016 - "The medical records of 19 children with chromosome 22q11.2 duplication who had undergone complete ophthalmological examination, including dilated fundus examination and cycloplegic refraction, were studied retrospectively. "

Therapies and Procedures

Ligation

02/01/2008 - "We report two familial cases of 22q11.2 duplication detected using multiplex ligation-dependent probe amplification (MLPA). "
04/01/2009 - "Multiplex ligation-dependent probe amplification analysis revealed 10 cases (4.15%) with changes in the number of copies within the region of 22q11.2, of which 7 cases were hemizygous interstitial microdeletion from CLTCL1 to LZTR1, 1 case with deletion of the region from CLTCL1 to PCQAP, and 2 cases with 22q11.2 duplication, one of which spanned from ZNF74 to LZTR1, and simultaneously showed trisomy 21 by karyotyping analysis, and the other spanned from HIC2 to TOP3B. "