%0 Journal Article
%T Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH
%A Ochando I
%A Urbano A
%A Rubio J
%A Rueda J
%J The Application of Clinical Genetics
%D 2012
%I Dove Medical Press
%X Isabel Ochando,1 Antonio Urbano,1 Juana Rubio,2 Joaqu¨ªn Rueda1,31Unidad de Gen¨¦tica, Hospital Cl¨ªnica Vistahermosa, Alicante, 2Hospital Virgen de la Vega, Murcia, 3Departamento de Histolog¨ªa y Anatom¨ªa, Universidad Miguel Hern¨¢ndez, Alicante, SpainAbstract: Phelan¨CMcDermid 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¨CMcDermid syndrome both clinically and at the molecular level allows genotype-phenotype correlations that provide clues to help elucidate the clinical implications.Keywords: 22q13 deletion, subtelomeric rearrangements, Phelan¨CMcDermid syndrome, genotype¨Cphenotype correlations
%U http://www.dovepress.com/clinical-and-molecular-characterization-of-a-patient-with-a-combinatio-a10946