Chromosome abnormalities without phenotypic consequences
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/BF03194674.pdf
Reference78 articles.
1. Anderlid BM, Sahlen S, Schoumans J, Holmberg E, Ashgren I, Mortier G, et al. 2001. Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy. Am J Med Genet 99: 223–233.
2. Barber JCK, Joyce CA, Collinson MN, Nicholson JC, Willatt LR, Dyson HM, et al. 1998. Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance. J Med Genet 35: 491–496.
3. Barber JCK, Mahl H, Portch J, Crawfurd MD’A, 1991. Interstitial deletions without phenotypic effect: prenatal diagnosis of a new family and brief review. Prenat Diagn. 11: 411–416
4. Barber JC, Reed CJ, Dahoun SP, Joyce CA, 1999. Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level. Hum Genet 104: 211–218.
5. Barber JCK, 2000. An investigation of euchromatic cytogenetic imbalances without phenotypic effect. PhD Thesis, University of Southampton.
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