title: Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3.
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.
authors: Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics and Archbishop Makarios III Medical Centre, 2370 Nicosia, Cyprus.
authors: George A
authors: GA
authors: Tanteles
authors: Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics and Archbishop Makarios III Medical Centre, 2370 Nicosia, Cyprus.
authors: Elpiniki
authors: E
authors: Nikolaou
authors: Clinical Sciences Neurology Clinic B, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.
authors: Yiolanda
authors: Y
authors: Christou
authors: Cytogenetics and Genomics Department, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.
authors: Angelos
authors: A
authors: Alexandrou
authors: Cytogenetics and Genomics Department, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.
authors: Paola
authors: P
authors: Evangelidou
authors: Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics and Archbishop Makarios III Medical Centre, 2370 Nicosia, Cyprus.
authors: Violetta
authors: V
authors: Christophidou-Anastasiadou
authors: Cytogenetics and Genomics Department, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.
authors: Carolina
authors: C
authors: Sismani
authors: Clinical Sciences Neurology Clinic B, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.
authors: Savvas S
authors: SS
authors: Papacostas