Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH

ical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH Case report (1752) Total Article Views Authors: Ochando I, Urbano A, Rubio J, Rueda J Published Date September 2012 Volume 2012:5 Pages 93 - 96 DOI: http://dx.doi.org/10.2147/TACG.S35799 Received: 10 July 2012 Accepted: 07 August 2012 Published: 07 September 2012 Isabel Ochando,1 Antonio Urbano,1 Juana Rubio,2 Joaquín Rueda1,3 1Unidad de Genética, Hospital Clínica Vistahermosa, Alicante, 2Hospital Virgen de la Vega, Murcia, 3Departamento de Histología y Anatomía, Universidad Miguel Hernández, Alicante, Spain 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.