
Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization
Keywords: 5-BrdU; 5-bromodeoxyuridine; aCGH; array comparative genomic hybridization; ATRX; alpha thalassemia/mental retardation syndrome X-linked; CNV; copy number variation; CKT; creatinine kinase-phospho-total; CT; computed tomography; FISH; fluorescence in situ