A review of 22q11.2 microdeletion syndrome: clinical and diagnostic perspective
Author:
Affiliation:
1. Department of Biomedical Sciences, Faculty of Health Sciences, University of Johannesburg, South Africa
2. National Health Laboratories Services, South Africa
3. Department of Human Genetics, University of the Witwatersrand, South Africa
Publisher
Medpharm Publications
Subject
General Medicine
Reference51 articles.
1. Kobrynski LJ Sullivan KE Velocardiofacial syndrome DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes Lancet 2007 370 9596 1443 52 https://doi.org/10.1016/S0140-6736(07)61601-8
2. Kruszka P Addissie YA McGinn DE 22q11.2 deletion syndrome in diverse populations Am J Med Genet A 2017 173 4 879 88 https://doi.org/10.1002/ajmg.a.38199
3. Wayhelova M Smetana J Vallova V The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay BMC Med Genomics 2019 12 1 111 https://doi.org/10.1186/s12920-019-0559-7
4. Shaffer LG Bejjani BA Medical applications of array CGH and the transformation of clinical cytogenetics Cytogenet Genome Res 2006 115 3-4 303 9 https://doi.org/10.1159/000095928
5. Lichtenbelt KD Knoers NVAM Schuring-Blom GH From karyotyping to array-CGH in prenatal diagnosis Cytogenet Genome Res 2011 135 3-4 241 50 https://doi.org/10.1159/000334065
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