22q13 Microduplication in two patients with common clinical manifestations: a recognizable syndrome?
Open accessAbstract
We report here on two unrelated patients (Patients 1 and 2) with a cryptic microduplication involving a 22q13 segment. Both patients manifested infantile hypotonia, developmental delay, and growth deficiency. In addition, an abnormal signal intensity area was detected in the frontal white matter of Patient 2 by brain MRI. Whole-genome microarray comparative genomic hybridization for Patient 1 and fluorescence in situ hybridization analysis with 22q-subtelomeric probes performed in both patients showed a submicroscopic 22q13 duplication that involved the SHANK3 gene. The duplication in Patient 1 was de novo type, while that in Patient 2 was derived from a familial 17;22 translocation. The presence of common clinical manifestations in the two patients with the common duplicated region led to a conclusion that 22q terminal duplication is a recognizable clinical entity, that is, the 22q13 microduplication syndrome.
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- Authors
- Okamoto, N., Kubota, T., Nakamura, Y., Murakami, R., Nishikubo, T., Tanaka, I., Takahashi, Y., Hayashi, S., Imoto, I., Inazawa, J., Hosokai, N., Kohsaka, S., & Uchino, S.
- Affiliations
- Osaka Women's and Children's Hospital (JP)
- University of Yamanashi (JP)
- Hyogo Prefectural Awaji Medical Center (JP)
- Nara Medical University (JP)
- Tokyo Medical and Dental University (JP)
- Mitsubishi Group (Japan) (JP)
- National Institute of Neuroscience (JP)
- Corresponding author
- Okamoto, Nobuhiko
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2007-11-27
- Volume
- 143A
- Issue
- 23
- Pages
- 2804-2809
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2018562048
- Cited by
- 117
- References
- 13
- Citations by year
- 2026: 1 · 2025: 1 · 2023: 2 · 2021: 7 · 2020: 4 · 2019: 1 · 2018: 35 · 2017: 2 · 2016: 3 · 2015: 2 · 2014: 2 · 2013: 3 · 2012: 4
- FWCI
- 1.96
- Type
- journal article
- Language
- en
- Open access
- green
- pure.teikyo.jp
- Licence
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Institutional Repositories DataBase (IRDB) (submittedVersion, cc-by-nc-nd)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- SHANK3, infantile hypotonia, developmental delay, growth deficiency, 22 translocation, de novo duplication, array comparative genomic hybridization, fluorescence in situ hybridization
- MeSH terms
- Brain, Carrier Proteins, Child, Developmental Disabilities, Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 22, Female, Growth Disorders, Humans, Magnetic Resonance Imaging, Muscle Hypotonia, Nerve Tissue Proteins, Syndrome, In Situ Hybridization, Fluorescence
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