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22q11缺失:一种新发现的行为和精神障碍病因。

Deletion 22q11: a newly recognized cause of behavioral and psychiatric disorders.

作者信息

McCandless S E, Scott J A, Robin N H

机构信息

Department of Genetics, Center for Human Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Ohio, USA.

出版信息

Arch Pediatr Adolesc Med. 1998 May;152(5):481-4. doi: 10.1001/archpedi.152.5.481.

DOI:10.1001/archpedi.152.5.481
PMID:9605032
Abstract

BACKGROUND

Chromosome 22q11 deletion (del22q11), the most common microdeletion syndrome, causes a wide spectrum of clinical disorders. Recent studies have suggested that significant psychiatric and behavioral disturbances occur in up to 60% of these individuals.

OBJECTIVE

To illustrate the spectrum of behavioral and psychiatric abnormalities associated with del22q11 and the subtle nature of its associated physical findings.

PATIENTS AND METHODS

Case series describing psychiatric and behavioral findings in 3 patients with del22q11.

RESULTS AND CONCLUSIONS

Behavioral and psychiatric problems are common in patients with del22q11 syndrome. Because the physical manifestations of the disorder are so variable and may be subtle, the behavioral and psychiatric manifestations may be the presenting problem. Providers must therefore consider del22q11 as a potential diagnosis in children and adults with behavioral and psychiatric problems. Furthermore, behavioral and psychiatric problems need to be looked for when caring for children and adolescents with a known diagnosis of del22q11.

摘要

背景

22q11染色体缺失(del22q11)是最常见的微缺失综合征,可导致多种临床疾病。近期研究表明,高达60%的此类个体存在明显的精神和行为障碍。

目的

阐述与del22q11相关的行为和精神异常谱及其相关体格检查结果的细微特征。

患者与方法

病例系列描述了3例del22q11患者的精神和行为表现。

结果与结论

行为和精神问题在del22q11综合征患者中很常见。由于该疾病的体格表现差异很大且可能很细微,行为和精神表现可能是首发问题。因此,对于有行为和精神问题的儿童及成人,医疗服务提供者必须将del22q11视为一种潜在诊断。此外,在照料已知诊断为del22q11的儿童和青少年时,需要留意其行为和精神问题。

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Social skills and executive function deficits in children with the 22q11 Deletion Syndrome.22q11缺失综合征患儿的社交技能和执行功能缺陷
Appl Neuropsychol. 2006;13(4):258-68. doi: 10.1207/s15324826an1304_7.
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Patients' age at time of testing for chromosome 22q11 microdeletions: missed opportunities for genetic counseling.
进行22号染色体q11微缺失检测时患者的年龄:遗传咨询的错失机会。
Pediatr Cardiol. 2000 Mar-Apr;21(2):183. doi: 10.1007/s002469910034.
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Phenotype of adults with the 22q11 deletion syndrome: A review.22q11缺失综合征成年患者的表型:综述
Am J Med Genet. 1999 Oct 8;86(4):359-65. doi: 10.1002/(sici)1096-8628(19991008)86:4<359::aid-ajmg10>3.0.co;2-v.
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RNAs in the sera of Persian Gulf War veterans have segments homologous to chromosome 22q11.2.海湾战争退伍军人血清中的RNA具有与22号染色体q11.2区域同源的片段。
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