Mild Phenotype in a Patient with aDe Novo6.3 Mb Distal Deletion at 10q26.2q26.3

George A.Tanteles; ElpinikiNikolaou; YiolandaChristou; AngelosAlexandrou; PaolaEvangelidou; ViolettaChristophidou-Anastasiadou; CarolinaSismani; Savvas S.Papacostas

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Mild Phenotype in a Patient with aDe Novo6.3 Mb Distal Deletion at 10q26.2q26.3

机译：在10q26.2q26.3处患有ade Novo6.3 Mb远端缺失的患者的轻度表型

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We report on a 29-year-old Greek-Cypriot female with ade novo6.3 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.

机译：我们报告了一位29岁的希腊塞浦路斯女性，其ade novo6.3 Mb远端10q26.2q26.3缺失。她有非常轻度的神经认知表型，发育和智力接近正常。此外，她还具有某些独特的特征和体位性心动过速。我们回顾了相关文献，并假设她的某些特征可能与诊断相关。该报告说明了阵列CGH在阐明相对温和表型方面的强大诊断能力。

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《Case Reports in Genetics》 |2015年第2期|共5页
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George A.Tanteles; ElpinikiNikolaou; YiolandaChristou; AngelosAlexandrou; PaolaEvangelidou; ViolettaChristophidou-Anastasiadou; CarolinaSismani; Savvas S.Papacostas;
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1. A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3Mb deletion encompassing GLI2 [J] . KevelamS.H., VanHarsselJ.J., VanDerZwaagB., American journal of medical genetics, Part A . 2012,第1期

机译：患有轻度全脑前脑频谱表型和异型性且包含MLI2的1.3Mb缺失的患者
2. Mild phenotype in a patient with a de-novo 2.9-Mb interstitial deletion at 13q12.11. [J] . Tanteles GA, Dixit A, Smith N, Clinical dysmorphology . 2011,第2期

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3. Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region [J] . Jos I M Egger, Willem M A Verhoeven, Wim Verbeeck, Neuropsychiatric Disease and Treatment . 2014,第1期

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6. Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3 [O] . George A. Tanteles, Elpiniki Nikolaou, Yiolanda Christou, 2015

机译：在10q26.2q26.3进行De Novo 6.3 Mb远端缺失的患者的轻度表型
7. A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus [O] . Zanetti, Alessandra, Tomanin, Rosella, Rampazzo, Angelica, 2014

机译：一名患有严重表型的猎人患者发现有两个大缺失和两个重复，分别向IDS基因座延伸了1.2 Mb

Mild Phenotype in a Patient with aDe Novo6.3 Mb Distal Deletion at 10q26.2q26.3

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