22q11.2 deletion syndrome.
22q11.2 deletion syndrome.
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DOI：
10.1038/nrdp.2015.71
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发表时间：
2015-11-19
期刊：
影响因子：
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通讯作者：
Bassett AS
中科院分区：
文献类型：
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作者：
McDonald-McGinn DM;Sullivan KE;Marino B;Philip N;Swillen A;Vorstman JA;Zackai EH;Emanuel BS;Vermeesch JR;Morrow BE;Scambler PJ;Bassett AS
22q11.2 缺失综合征 (22q11.2DS) 是最常见的染色体微缺失疾病，估计主要由从头非同源减数分裂重组事件引起，大约每 1,000 个胎儿中就有 1 个发生。 20 世纪 60 年代，首次用英语描述了由这种染色体差异引起的一系列发现，该病例是在 20 世纪 60 年代对患有迪乔治综合征的儿童进行的，该综合征表现为免疫缺陷、甲状旁腺功能减退和先天性心脏病的临床三联征。现在已知该综合征具有异质性表现，包括多种额外的先天性异常和后发性疾病，例如腭、胃肠道和肾脏异常、自身免疫性疾病、可变的认知迟缓、行为表型和精神疾病——所有这些都远远扩展了迪乔治综合征的原始描述。治疗需要采用多学科方法，涉及儿科、普通医学、外科、精神病学、心理学、介入治疗（物理、职业、言语、语言和行为）和遗传咨询。虽然常见，但缺乏对病情的认识和/或缺乏对基因检测方法的熟悉，加上临床表现的广泛差异，会延误诊断。早期诊断，最好是产前或新生儿，可以改善结果，从而强调普遍筛查的重要性。同样重要的是，22q11.2DS 已成为了解罕见和常见先天性异常、医疗状况、精神和发育障碍的模型，并可能提供一个更好地了解这些疾病的平台，同时为 22q11.2DS 患者和普通人群中具有这些相关特征的患者提供整个生命周期转化策略的机会。
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population.