Pure de-novo 5 Mb duplication at Xp11.22–p11.23 in a male: phenotypic and molecular characterization
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg2006125.pdf
Reference24 articles.
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2. Baumstarck A, Barni G, Djalali M, Geerkens C, Mitulla B, Mattfeldt T, de Almeida JC, Vargas FR, Llerana JC Jr, Vogel W, Just W (1996) Xp-duplications with and without sex reversal. Hum Genet 97:79–86
3. Bonnet C, Zix C, Gregoire MJ, Brochet K, Duc M, Rousselet F, Philippe C, Jonveaux P (2006) Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity. Am J Med Genet A 140:233–237
4. Bourdon V, Plessis G, Chapon F, Guarnieri J, Derlon JM, Jonveaux P (2004) Chromosome imbalances in oligodendroglial tumors detected by comparative genomic hybridization. Ann Genet 47:105–111
5. Cianchetti C, Muntoni F, Falchi A, Nucaro A, Sannio-Fancello G, Cao A, Marruso M (1992) X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter. Am J Med Genet 43:475–478
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