Department of Hispanic Studies, University of Castilla-La Mancha, Albacete, Spain.
Department of Spanish, Linguistics and Theory of Literature (Linguistics), University of Sevilla, Seville, Spain.
Clin Linguist Phon. 2023 Dec 2;37(12):1157-1170. doi: 10.1080/02699206.2022.2085174. Epub 2022 Jun 14.
Copy number variants (CNVs) found in individuals with communication deficits provide a valuable window to the genetic causes of problems with language and, more generally, to the genetic foundation of the human-specific ability to learn and use languages. This paper reports on the language and communication problems of a patient with a microduplication in 22q11.23 and a microdeletion in 7q31.1-q1.33 encompassing . The proband exhibits severe speech problems and moderate comprehension deficits, whereas her pragmatic abilities are a relative strength, as she uses gestures quite competently to compensate for her expressive issues. This profile is compatible with the deficiencies found in patients with similar CNVs, particularly with people bearing microdeletions in 7q31.1-q31.33.
个体中发现的拷贝数变异 (CNVs) 为语言障碍等问题的遗传原因，以及人类学习和使用语言的特定遗传基础提供了有价值的窗口。本文报告了一名患者的语言和沟通问题，该患者在 22q11.23 处存在微重复，在 7q31.1-q1.33 处存在微缺失，涵盖了. 该先证者表现出严重的言语问题和中度的理解缺陷，而她的语用能力相对较强，因为她相当熟练地使用手势来弥补表达问题。这种表现与具有类似 CNVs 的患者的缺陷相匹配，特别是那些在 7q31.1-q31.33 处存在微缺失的患者。
