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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.

SUBMITTER: Tanteles GA

PROVIDER: S-EPMC4532806 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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

Tanteles George A GA Nikolaou Elpiniki E Christou Yiolanda Y Alexandrou Angelos A Evangelidou Paola P Christophidou-Anastasiadou Violetta V Sismani Carolina C Papacostas Savvas S SS

Case reports in genetics 20150729

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 phenoty ...[more]

PMID: 26294985

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