Partial monosomy 1q43 and partial trisomy 20q13.2: a case report
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health
Reference15 articles.
1. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44;Ballif;Hum Genet,2012
2. Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review;Blanc;Am J Med Genet A,2008
3. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum;Boland;Am J Hum Genet,2007
4. Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?;De Vries;J Med Genet,2001
5. FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications;Gentile;Am J Med Genet A,2003
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