A novel presentation of a rare chromosome 2p25.2 deletion
- PMID: 20173628
- DOI: 10.1097/MCD.0b013e328337bb28
A novel presentation of a rare chromosome 2p25.2 deletion
References
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- Francis GL, Flannery DB, Byrd JR, Fisher ST 1990. An apparent de novo terminal deletion of chromosome 2 (pter→p24). J Med Genet 27:137–138.
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- Miller ME 1993. Prader-Willi phenotype in half-siblings with an unbalanced translocation – monosomic for 2p24-2pter and trisomic for 18q21-qter. Am J Hum Genet 53:A582.
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- Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL 2006. Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43:478–489.
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