Article
Interstitial duplication of chromosome region 1q25.1q25.3: report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms.
American journal of medical genetics. Part A - 1 Mar 2015
Kehrer Martin, Liehr Thomas, Benkert Tanja, Singer Sylke, Grasshoff Ute, Schaeferhoff Karin, Bonin Michael, Weichselbaum Annette, Tzschach Andreas
Abstract excerpt
Isolated interstitial duplications of chromosome band 1q25 are apparently very rare; no patients with detailed molecular and clinical characterization of duplications restricted to this region have been published to date. We report on a 9-year-old girl with mild cognitive deficits, tall stature, macrocephaly and discrete dysmorphic features in whom a de novo interstitial 7.5 Mb duplication of 1q25.1q25.3 was...
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