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22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
Open accessAbstract
Chromosome 22q11.21 contains a cluster of low-copy repeats (LCRs), referred to as LCR22A-H, that mediate meiotic non-allelic homologous recombination, resulting in either deletion or duplication of various intervals in the region. The deletion of the DiGeorge/velocardiofacial syndrome interval LCR22A-D is the most common recurrent microdeletion in humans, with an estimated incidence of ∼1:4,000 births. Deletion of other intervals in 22q11.21 have also been described, but the literature is often confusing, as the terms ‘proximal', ‘nested', ‘distal', and ‘atypical' have all been used to describe various of the other intervals. Individuals with deletions tend to have features with widely variable expressivity, even among families. This review concisely delineates each interval and classifies the reported literature accordingly.
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Cites
The impact of microRNAs on protein output
Baek, D., Villén, J., Shin, C., Camargo, F. D., Gygi, S. P., & Bartel, D. P. (2008) · Nature · doi:10.1038/nature07242 · Cited by 3,592
Spatio-temporal transcriptome of the human brain
Kang, H. J., Kawasawa, Y. I., Cheng, F., Zhu, Y., Xu, X., Li, M., Sousa, A. M. M., Pletikos, M., Meyer, K. A., Sedmak, G., et al. (2011) · Nature · doi:10.1038/nature10523 · Cited by 2,084
MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
Chahrour, M., Jung, S. Y., Shaw, C., Zhou, X., Wong, S. T. C., Qin, J., & Zoghbi, H. Y. (2008) · Science · doi:10.1126/science.1153252 · Cited by 1,823
Lachman, H. M., Papolos, D. F., Saito, T., Yu, Y.-M., Szumlanski, C. L., & Weinshilboum, R. M. (1996) · Pharmacogenetics · doi:10.1097/00008571-199606000-00007 · Cited by 1,788
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475
A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia
Klein, A. D., Kessel, A. G. V., Grosveld, G., Bartram, C. R., Hagemeijer, A., Bootsma, D., Spurr, N. K., Heisterkamp, N., Groffen, J., & Stephenson, J. R. (1982) · Nature · doi:10.1038/300765a0 · Cited by 1,378
Nackley, A. G., Shabalina, S. A., Tchivileva, I. E., Satterfield, K., Korchynskyi, O., Makarov, S. S., Maixner, W., & Diatchenko, L. (2006) · Science · doi:10.1126/science.1131262 · Cited by 848
Extrapolating brain development from experimental species to humans
Clancy, B., Finlay, B. L., Darlington, R. B., & Anand, K. J. S. (2007) · NeuroToxicology · doi:10.1016/j.neuro.2007.01.014 · Cited by 812
Recurrent 16p11.2 microdeletions in autism
Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm376 · Cited by 731
Research works printed but not linked: 76
- 10.1097/01.GIM.0000144011.97407.B6 · DOI
- 10.1093/hmg/ddn307 · DOI · Paper page
- 10.1176/appi.ajp.161.9.1700 · DOI
- 10.1016/j.ejmg.2009.05.010 · doi:10.1016/j.ejmg.2009.05.010
- 10.1016/j.ejmg.2010.12.007 · doi:10.1016/j.ejmg.2010.12.007
- 10.1016/j.ajhg.2007.09.014 · DOI
- 10.1634/stemcells.2006-0612 · DOI
- 10.1158/1078-0432.CCR-10-1795 · DOI · Paper page
- 10.1002/ajmg.a.35217 · DOI
- 10.1136/jmg.2009.069427 · DOI
- 10.3389/fgene.2012.00291 · DOI
- 10.1016/j.jpsychires.2014.04.019 · DOI
- 10.1002/uog.12550 · DOI
- 10.1016/j.neuroimage.2010.01.094 · DOI
- 10.1002/ajmg.a.31787 · doi:10.1002/ajmg.a.31787
- 10.1016/j.clim.2013.01.011 · DOI
- 10.1016/j.ajhg.2013.01.018 · DOI
- 10.1034/j.1399-0004.2003.00049.x · DOI
- 10.1002/pbc.22831 · DOI · Paper page
- 10.1086/302343 · DOI · Paper page
- 10.1016/j.ejmg.2012.09.009 · DOI
- 10.1002/ajmg.a.30756 · DOI
- 10.1186/1471-2350-10-48 · DOI
- 10.1176/appi.ajp.2010.09101463 · DOI
- 10.1159/000334262 · DOI
- 10.1136/jmg.39.10.e62 · doi:10.1136/jmg.39.10.e62
- 10.1016/j.biopsych.2013.07.021 · DOI
- 10.1016/j.devcel.2005.12.002 · DOI
- 10.1007/s00439-007-0386-3 · DOI
- 10.1002/humu.20640 · DOI
- 10.1002/ajmg.10166 · DOI
- 10.1002/ajmg.a.33119 · doi:10.1002/ajmg.a.33119
- 10.1002/(SICI)1096-8628(19961111)65:4<309::AID-AJMG12>3.0.CO;2-Y · doi:10.1002/(sici)1096-8628(19961111)65:4<309::aid-ajmg12>3.0.co;2-y
- 10.1038/35065105 · DOI · Paper page
- 10.1073/pnas.1318445111 · DOI
- 10.1002/ajmg.a.33367 · doi:10.1002/ajmg.a.33367
- 10.1097/00125817-200101000-00006 · DOI · Paper page
- 10.3389/fneur.2014.00238 · DOI
- 10.1002/ajmg.a.31882 · doi:10.1002/ajmg.a.31882
- 10.1038/gim.2013.79 · DOI
- 10.1016/j.ejmg.2013.07.002 · DOI
- 10.1016/j.devcel.2005.12.003 · DOI
- 10.1136/jmg.2010.082412 · DOI
- 10.1016/j.ejmg.2008.02.001 · DOI
- 10.1371/journal.pone.0091598 · DOI
- 10.1186/1755-8166-2-9 · DOI
- 10.1016/j.ejmg.2012.06.014 · DOI
- 10.1002/ddrr.5 · DOI
- 10.1016/j.ajhg.2014.12.025 · DOI
- 10.1097/YPG.0000000000000062 · DOI
- 10.1086/302235 · DOI
- 10.1136/jmg.2004.030619 · doi:10.1136/jmg.2004.030619
- 10.1136/jmg.2005.036350 · DOI · Paper page
- 10.1016/j.ejmg.2008.07.007 · DOI
- 10.1038/gim.2012.164 · DOI · Paper page
- 10.1002/ajmg.a.36711 · DOI
- 10.1136/jmg.34.10.798 · DOI · Paper page
- 10.1086/302514 · DOI
- 10.1523/JNEUROSCI.0679-08.2008 · DOI · Paper page
- 10.1146/annurev.genet.34.1.297 · DOI · Paper page
- 10.1093/hmg/9.4.489 · DOI · Paper page
- 10.1016/S0168-9525(02)02592-1 · DOI · Paper page
- 10.1111/j.1399-0004.2010.01456.x · DOI
- 10.1002/ajmg.a.34051 · DOI
- 10.1002/gcc.20862 · DOI
- 10.1002/ajmg.a.35517 · DOI
- 10.1002/ajmg.a.33802 · DOI
- 10.1016/j.ejmg.2012.08.011 · DOI
- 10.1002/humu.20195 · doi:10.1002/humu.20195
- 10.1002/ajmg.a.32359 · DOI
- 10.1016/S1471-4914(03)00141-2 · DOI
- 10.1159/000330123 · DOI
- 10.1097/MOP.0b013e328358acd0 · DOI
- 10.1016/j.jpsychires.2013.07.004 · DOI
- 10.4161/nucl.27364 · DOI
- 10.1002/ajmg.a.36177 · DOI
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A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
The ground state of embryonic stem cell self-renewal
Ying, Q.-L., Wray, J., Nichols, J., Batlle-Morera, L., Doble, B., Woodgett, J., Cohen, P., & Smith, A. (2008) · Nature · doi:10.1038/nature06968 · Cited by 3,442
Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882
McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236
The Fibroblast Growth Factor signaling pathway
Ornitz, D. M., & Itoh, N. (2015) · WIREs Developmental Biology · doi:10.1002/wdev.176 · Cited by 2,050
Metadata
- Authors
- Burnside, R. D.
- Venue
- Cytogenetic and Genome Research
- Publisher
- S. Karger AG
- Published
- 2015
- Volume
- 146
- Issue
- 2
- Pages
- 89-99
- ISSN
- 1424-859X (ISSN-L)
- 1424-8581
- OpenAlex
- W1482498530
- Cited by
- 1,946
- References
- 36
- FWCI
- 133.02
- Type
- journal article
- Language
- en
- Open access
- green
- Licence
- www.karger.com/Services/SiteLicenses (vor)
- www.karger.com/Services/SiteLicenses (tdm)
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