Pure interstitial dup(6)(q22.31q22.31) – a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13052-015-0113-y.pdf
Reference17 articles.
1. Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE. Segmental duplications: organization and impact within the current human genome project assembly. Genome Res. 2001;11(6):1005–17. doi:10.1101/gr.187101.
2. IHGSC (International Human Genome Sequencing Consortium). Initial sequencing and analysis of the human genome. Nature. 2001;409:860–921. doi:10.1038/35057062.
3. Kotzot D, Martinez MJ, Bagci G, Basaran S, Baumer A, Binkert F, et al. Parental origin and mechanisms of formation of cytogenetically recognizable de novo direct and inverted duplications. J Med Genet. 2000;37:281–6. doi:10.1136/jmg.37.4.281.
4. Goh Denise LM, Tan Arnold SC, Chen Jean YC, Van den Berghe JA. Dysmorphic sibs trisomic for the region 6q22.1-6q23.3. J Med Genet. 2000;37:889–92. doi:10.1136/jmg.37.11.889.
5. Pazooki M, Lebbar A, Roubergues A, Baverel F, Letessier D, Dupont JM. Pure familial 6q21q22.1 duplication in two generations. Eur J Med Genet. 2007;50(1):60–5. doi:10.1016/j.ejmg.2006.09.002.
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1. Autism spectrum disorder in India: a scoping review;International Review of Psychiatry;2020-06-30
2. De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype–Phenotype Correlation;Journal of Pediatric Genetics;2019-08-12
3. Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?;Molecular Cytogenetics;2016-06-02
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