Article
Molecular and clinical delineation of the 17q22 microdeletion phenotype.
European journal of human genetics : EJHG - 1 Oct 2013
Laurell Tobias, Lundin Johanna, Anderlid Britt-Marie, Gorski Jerome L, Grigelioniene Giedre, Knight Samantha J L, Krepischi Ana C V, Nordenskjöld Agneta, Price Susan M, Rosenberg Carla, Turnpenny Peter D, Vianna-Morgante Angela M, Nordgren Ann
Abstract excerpt
Deletions involving 17q21-q24 have been identified previously to result in two clinically recognizable contiguous gene deletion syndromes: 17q21.31 and 17q23.1-q23.2 microdeletion syndromes. Although deletions involving 17q22 have been reported in the literature, only four of the eight patients reported were identified by array-comparative genomic hybridization (array-CGH) or flourescent in situ hybridization....
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