title: Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH.
abstract: Phelan-McDermid syndrome is caused by the loss of terminal regions of different sizes at 22q13. There is a wide range of severity of symptoms in patients with a 22q13 deletion, but these patients usually show neonatal hypotonia, global developmental delay, and dysmorphic traits. We carried out a clinical and molecular characterization of a patient with neonatal hypotonia and dysmorphic features. Array-based comparative genomic hybridization showed an 8.24 Mb terminal deletion associated with a 0.20 Mb duplication. Characterization of patients with Phelan-McDermid syndrome both clinically and at the molecular level allows genotype-phenotype correlations that provide clues to help elucidate the clinical implications.
authors.affiliation: Unidad de Genética, Hospital Clínica Vistahermosa, Alicante.
authors.forename: Isabel
authors.initials: I
authors.lastname: Ochando
authors.forename: Antonio
authors.initials: A
authors.lastname: Urbano
authors.forename: Juana
authors.initials: J
authors.lastname: Rubio
authors.forename: Joaquín
authors.initials: J
authors.lastname: Rueda
keywords: 22q13 deletion; Phelan-McDermid syndrome; genotype-phenotype correlations; subtelomeric rearrangements