Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3

George A Tanteles; Elpiniki Nikolaou; Yiolanda Christou; Angelos Alexandrou; Paola Evangelidou; Violetta Christophidou-Anastasiadou; Carolina Sismani; Savvas S Papacostas

doi:10.1155/2015/242891

Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3

Case Rep Genet. 2015:2015:242891. doi: 10.1155/2015/242891. Epub 2015 Jul 29.

Authors

George A Tanteles¹, Elpiniki Nikolaou¹, Yiolanda Christou², Angelos Alexandrou³, Paola Evangelidou³, Violetta Christophidou-Anastasiadou¹, Carolina Sismani³, Savvas S Papacostas²

Affiliations

¹ Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics and Archbishop Makarios III Medical Centre, 2370 Nicosia, Cyprus.
² Clinical Sciences Neurology Clinic B, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.
³ Cytogenetics and Genomics Department, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.

Abstract

We report on a 29-year-old Greek-Cypriot female with a de novo 6.3 Mb distal 10q26.2q26.3 deletion. She had a very mild neurocognitive phenotype with near normal development and intellect. In addition, she had certain distinctive features and postural orthostatic tachycardia. We review the relevant literature and postulate that certain of her features can be diagnostically relevant. This report illustrates the powerful diagnostic ability of array-CGH in the elucidation of relatively mild phenotypes.