22q11.2 duplication syndrome
| 22q11.2 duplication syndrome | |
|---|---|
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| Specialty | Medical genetics  |
22q11.2 duplication syndrome is a rare
Presentation
The most frequent reported symptoms in patients with 22q11.2 duplication syndrome are
Genetics
Duplications of 22q11 vary in size and thereby in gene content. They include the typical common 3-Mb microduplication, 1.5-Mb nested duplication, consistent with non-allelic homologous recombination (NAHR) using distinct low-copy repeats. These microduplications likely represent the predicted reciprocal rearrangements to the microdeletions characterized in the 22q11.2 region.[2] Smaller microduplications may occur within this highly dynamic with frequent rearrangements using alternative low-copy repeats as recombination substrates within and distal to the DiGeorge syndrome region.[citation needed]
Origin of duplication
The majority of 22q11 duplications are
Diagnosis
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Treatment
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References
Further reading
- Ensenauer RE, Adeyinka A, Flynn HC, et al. (November 2003). "Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients". Am. J. Hum. Genet. 73 (5): 1027–40. PMID 14526392.
- Yobb TM, Somerville MJ, Willatt L, et al. (May 2005). "Microduplication and triplication of 22q11.2: a highly variable syndrome". Am. J. Hum. Genet. 76 (5): 865–76. PMID 15800846.
- Portnoï MF, Lebas F, Gruchy N, et al. (August 2005). "22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes". Am. J. Med. Genet. A. 137 (1): 47–51. S2CID 26654463.
- Alberti A, Romano C, Falco M, et al. (February 2007). "1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features". Clin. Genet. 71 (2): 177–82. S2CID 38867613.
- Zweier C, Sticht H, Aydin-Yaylagül I, Campbell CE, Rauch A (March 2007). "Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions". Am. J. Hum. Genet. 80 (3): 510–7. PMID 17273972.