Vorstman J A S, de Ranitz A G S, Udink ten Cate F E A, Beemer F A, Kahn R S
Afd. Psychiatrie, Zorglijn Schizofrenie, Universitair Medisch Centrum Utrecht, Heidelberglaan 100, 3584 CX Utrecht.
Ned Tijdschr Geneeskd. 2002 Oct 26;146(43):2033-6.
A bifid uvula and nasal speech were observed in a 25-year-old woman who was referred because of psychotic complaints. Fluorescence in situ hybridisation (FISH) research for the 22q11 deletion was carried out and the deletion was found. The 22q11-deletion syndrome (22q11DS) is characterised by somatic abnormalities including cardiovascular defects, velopharyngeal anomalies and typical facial characteristics. There is an increasing interest in the cognitive and psychiatric consequences of 22q11DS. There is a high prevalence of learning disabilities and the delayed development of language and speech. Mild mental retardation or borderline intellectual functioning is often reported. A broad range of psychiatric symptoms have been reported; a consistent finding is the development of a psychosis in a considerable proportion of 22q11DS patients from early adulthood onwards. It is important to consider the possibility of 22q11DS in psychiatric patients, as then early intervention strategies for later psychopathological abnormalities are possible, as well as the provision of genetic counselling.
一名25岁女性因精神症状前来就诊,检查发现其腭垂裂和鼻音。对其进行了22q11缺失的荧光原位杂交(FISH)检测,结果发现存在该缺失。22q11缺失综合征(22q11DS)的特征包括躯体异常,如心血管缺陷、腭咽异常和典型面部特征。人们对22q11DS的认知和精神后果越来越感兴趣。该综合征患者中学习障碍以及语言和言语发育迟缓的发生率很高。常报告有轻度智力障碍或边缘智力功能。已报告了广泛的精神症状;一个一致的发现是,相当一部分22q11DS患者从成年早期开始会出现精神病。对于精神科患者,考虑22q11DS的可能性很重要,因为这样一来,就有可能针对后期的精神病理异常采取早期干预策略,同时也能提供遗传咨询。