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




Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3 - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Case Reports in Genetics - Volume 2015 2015, Article ID 242891, 5 pages -

Case Report

Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics and Archbishop Makarios III Medical Centre, 2370 Nicosia, Cyprus

Clinical Sciences Neurology Clinic B, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus

Cytogenetics and Genomics Department, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus

Received 26 March 2015; Accepted 25 June 2015

Academic Editor: Mohnish Suri

Copyright © 2015 George A. Tanteles et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.





Autor: George A. Tanteles, Elpiniki Nikolaou, Yiolanda Christou, Angelos Alexandrou, Paola Evangelidou, Violetta Christophidou-Anast

Fuente: https://www.hindawi.com/



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