Variable Penetrance of the 15q11.2 BP1-BP2 Microduplication in a Family with Cognitive and Language Impairment

Antonio Benítez-Burraco; Montserrat Barcos-Martínez; Isabel Espejo-Portero; Salud Jiménez-Romero

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Variable Penetrance of the 15q11.2 BP1-BP2 Microduplication in a Family with Cognitive and Language Impairment

机译：认知和语言障碍家庭中的15q11.2 BP1-BP2微复制的可变渗透率

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The 15q11.2 BP1-BP2 region is found duplicated or deleted in people with cognitive, language, and behavioral impairment. We report on a family (a father and 3 male twin siblings) that presents with a duplication of the 15q11.2 BP1-BP2 region and a variable phenotype: the father and the fraternal twin are normal carriers, whereas the monozygotic twins exhibit severe language and cognitive delay as well as behavioral disturbances. The genes located within the duplicated region are involved in brain development and function, and some of them are related to language processing. The probands' phenotype may result from changes in the expression level of some of these genes important for cognitive development.

机译：发现15q11.2 BP1-BP2区域在具有认知，语言和行为障碍的人中重复或缺失。我们报告了一个家庭（一个父亲和三个男性双胞胎兄弟姐妹）呈现出15q11.2 BP1-BP2区域的重复和一个可变的表型：父亲和异卵双胞胎是正常携带者，而单卵双胞胎则表现出严厉的语言和认知延迟以及行为障碍。位于重复区域内的基因与大脑的发育和功能有关，其中一些与语言加工有关。先证者的表型可能是由这些对于认知发育很重要的基因的表达水平的变化引起的。

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《Molecular syndromology》 |2017年第147期|共页
作者
Antonio Benítez-Burraco; Montserrat Barcos-Martínez; Isabel Espejo-Portero; Salud Jiménez-Romero;
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中图分类基础医学;
关键词
Copy number variationsCognitive delayLanguage impairmentMicroduplication 15q11.2 BP1#x02013BP2Variable penetrance;

机译：拷贝数变化认知延迟语言障碍微复制15q11.2 BP1＆＃x02013BP2可变渗透率;

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1. SOLVING THE PUZZLE OF LOW PENETRANCE IN A FAMILY WITH A PROXIMAL 15Q11.2 (BP1-BP2) MICRODELETION [J] . Ramanathan S., Clark R. D. Journal of investigative medicine . 2019,第1期

机译：在具有近15Q11.2（BP1-BP2）微缺失的家庭中求解低通孔的难题
2. Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa [J] . Chang Xiao, Qi Huiqi, Liu Yichuan, Journal of psychiatric research . 2019,第期

机译：15Q11.2 BP1-BP2基因座的微拆量富集厌食症神经症患者
3. Recurrent 15q11.2 BP1-BP2 Microdeletions and Microduplications in the Etiology of Neurodevelopmental Disorders [J] . Picinelli Chiara, Lintas Carla, Piras Ignazio Stefano, American journal of medical genetics, Part B. Neuropsychiatric genetics: the official publication of the International Society of Psychiatric Genetics . 2016,第8期

机译：循环15Q11.2 BP1-BP2微术和微扫描在神经发育障碍的病因中
4. KOTOBAKARI Study: Using Natural Language Processing of Patient Short Narratives to Detect Cancer Related Cognitive Impairment [C] . Eiji Aramaki, Mai Miyabe, Chihiro Honda, MEDINFO . 2019

机译：Kotobakari研究：利用患者短篇叙事的自然语言处理来检测癌症相关的认知障碍
5. Awareness of functional difficulties in mild cognitive impairment: Relation to cognitive variables and mood. [D] . Okonkwo, Ozioma C. 2008

机译：对轻度认知障碍中的功能性障碍的意识：与认知变量和情绪的关系。
6. Variable Penetrance of the 15q11.2 BP1-BP2 Microduplication in a Family with Cognitive and Language Impairment [O] . Antonio Benítez-Burraco, Montserrat Barcos-Martínez, Isabel Espejo-Portero, 2017

机译：认知和语言障碍家庭中的15q11.2 BP1-BP2微复制的可变渗透率
7. Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families [O] . Isaac Baldwin, Robin L. Shafer, Waheeda A. Hossain, 2021

机译：在五个家庭中15q11.2 bp1-bp2缺失（烧伤 - Butler）综合征的基因组，临床和行为表征

Variable Penetrance of the 15q11.2 BP1-BP2 Microduplication in a Family with Cognitive and Language Impairment

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