De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation.

Cappellacci S; Martinelli S; Rinaldi R; Martinelli E; Parisi P; Mancini B; Pescosolido R; Grammatico P

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De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation.

机译：从头开始进行纯净的12q22q24.33复制：智障，ADHD和Dandy-Walker畸形病例的首次报道。

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We present a patient with a de novo 12q nonmosaic pure duplication characterized by multiple minor anomalies and Dandy-Walker malformation. A neurological and behavioral assessment revealed psychomotor retardation and attention deficit/hyperactivity disorder (ADHD), with neurobehavioral abnormalities (auto- and heteroaggressive behavior). Fluoxetine therapy in this case markedly improved the neurobehavioral profile, with a decreased level of aggression. To define the extension of the duplicated region, we performed FISH analyses by using YAC probes. The analyses revealed a tandem duplication of the 12q22q24.33 region, with the proximal breakpoint located between 96.5 and 97.6 cM and the distal one between 154 and 161 cM. This is the first case of pure de novo duplication involving the 12q22q24.33 region. To better define the clinical phenotype associated with 12q partial duplication, we compared our case with the four patients with similar pure duplications previously described.

机译：我们为患者提供了从头开始的12q非马赛克纯重复的患者，其特征是多个小异常和Dandy-Walker畸形。神经和行为评估显示精神运动迟缓和注意力缺陷/多动障碍（ADHD），伴有神经行为异常（自体和异性攻击行为）。在这种情况下，氟西汀治疗显着改善了神经行为特征，降低了攻击性。为了定义重复区域的延伸，我们使用YAC探针进行了FISH分析。分析显示串联重复12q22q24.33区域，近端断点位于96.5和97.6 cM之间，而远端断点位于154和161 cM之间。这是涉及12q22q24.33区域的纯从头复制的第一种情况。为了更好地定义与12q部分重复相关的临床表型，我们将我们的病例与上述四名具有相似纯重复的患者进行了比较。

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《American journal of medical genetics, Part A》 |2006年第11期|共5页
作者
Cappellacci S; Martinelli S; Rinaldi R; Martinelli E; Parisi P; Mancini B; Pescosolido R; Grammatico P;
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正文语种 eng
中图分类医学遗传学;
关键词
Abnormalities; Multiple; Chromosome Aberrations; Chromosomes; Human; Pair 12; 畸形; 多发性; 染色体畸变; 染色体; 人; 12对;

机译：Abnormalities;Multiple;Chromosome Aberrations;Chromosomes;Human;Pair 12;畸形;多发性;染色体畸变;染色体;人;12对;

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1. De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation. [J] . Cappellacci S, Martinelli S, Rinaldi R, American journal of medical genetics, Part A . 2006,第11期

机译：从头开始进行纯净的12q22q24.33复制：智障，ADHD和Dandy-Walker畸形病例的首次报道。
2. De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review [J] . Cristina Gug, Dorina Stoicanescu, Ioana Mozos, Frontiers in Pediatrics . 2020,第a期

机译：DE Novo 8P21.3→P23.3与T（4; 8）（Q35; p21.3）复制与精神发育迟滞，自闭症谱系障碍和先天性心脏缺陷相关的易位：病例报告与文献综述
3. De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review [J] . Gug Cristina, Stoicanescu Dorina, Mozos Ioana, Frontiers in Pediatrics . 2020,第3期

机译：DE NOVO 8P21.3→P23.3与T（4; 8）（Q35; p21.3）复制与精神发育迟滞，自闭症谱系障碍和先天性心脏缺损相关的易位：病例报告与文献综述
4. From ADHD to SAD: Analyzing the Language of Mental Health on Twitter through Self-Reported Diagnoses [C] . Glen Coppersmith, Mark Dredze, Craig Harman, Conference of the North American Chapter of the Association for Computational Linguistics: Human Language Technologies;Workshop on Computational Linguistics and Clinical Psychology: From Linguistic Signal to Clinical Reality . 2015

机译：从ADHD到SAD：通过自我报告的诊断分析Twitter上的心理健康语言
5. Revisiting the experimental design choices for approaches for the automated retrieval of duplicate issue reports [D] . Rakha, Mohamed Sami. 2017

机译：重新研究自动检索重复问题报告的方法的实验设计选择
6. De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation Autism Spectrum Disorder and Congenital Heart Defects: Case Report With Literature Review [O] . Cristina Gug, Dorina Stoicanescu, Ioana Mozos, 2020

机译：DE NOVO 8P21.3→P23.3与T（4; 8）（Q35; p21.3）复制与精神发育迟滞自闭症谱系障碍和先天性心脏缺损相关的易位：病例报告与文献综述
7. De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation [O] . Grasshoff, Ute, Bonin, Michael, Goehring, Ina, 2011

机译：在两名女性中进行了从头MECP2复制，随机X灭活和中度智力障碍
8. MR 69 Toward Progress: The Story of a Decade. A Third Report by the President's Committee on Mental Retardation About Developments in the National Campaign to Overcome Mental Retardation [R] . 1969

机译：mR 69迈向进步：十年的故事。总统精神发育迟滞委员会关于全国克服精神发育迟滞运动发展的第三份报告

De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation.

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