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2
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3
Evaluation of 22q11.2 deletion in Cleft Palate patients.腭裂患者22q11.2缺失的评估。
Ann Maxillofac Surg. 2012 Jul;2(2):121-6. doi: 10.4103/2231-0746.101334.
4
Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood.22q11.2微重复：儿童期临床、发育和行为特征描述
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Eur Arch Otorhinolaryngol. 2012 Feb;269(2):381-7. doi: 10.1007/s00405-011-1745-1. Epub 2011 Aug 23.
7
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).22q11.2染色体缺失综合征（迪格奥尔格综合征/心脏颜面综合征）
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8
Velo-cardio-facial syndrome: 30 Years of study.腭心面综合征：30年研究历程
Dev Disabil Res Rev. 2008;14(1):3-10. doi: 10.1002/ddrr.2.
9
Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.应用多重连接依赖探针扩增技术对22q11.2缺失和重复进行分子诊断。
Am J Med Genet A. 2007 Dec 15;143A(24):2924-30. doi: 10.1002/ajmg.a.32101.
10
Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate.基于人群的腭裂婴儿样本中22q11 DiGeorge综合征区域重复和缺失的患病率。
Am J Med Genet A. 2007 Jan 15;143A(2):129-34. doi: 10.1002/ajmg.a.31445.

伊朗腭裂患者中22q11.2微缺失综合征的患病率。

Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate.

作者信息

Nouri Narges, Memarzadeh Mehrdad, Salehi Mansoor, Nouri Nayereh, Meamar Rokhsareh, Behnam Mahdiyeh, Derakhshandeh Fatemeh, Kashkoolinejad Tahereh, Abdali Hossein

机构信息

Isfahan Cleft Lip and Palate Clinic, Faculty of Rehabilitation, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.

Isfahan Cleft Lip and Palate Clinic, Faculty of Rehabilitation, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Pediatric Surgery, Emam Hossein University Hospital, Isfahan, Iran.

出版信息

Adv Biomed Res. 2016 Dec 27;5:201. doi: 10.4103/2277-9175.192728. eCollection 2016.

DOI:10.4103/2277-9175.192728
PMID:28217639
原文链接:
https://pmc.ncbi.nlm.nih.gov/articles/PMC5220684/
Abstract

BACKGROUND

22q11.2 microdeletion syndrome is the most common multiple genetic disorder associated with learning disabilities, developmental delays, immune deficiency, hypocalcemia, and cleft palate. Finding some valid criteria for screening of 22q11.2 deletion syndromes in infants would be very helpful in early diagnosis and treatment.

MATERIALS AND METHODS

Since 69% of individuals with 22q11.2 deletion have a palatal abnormality, we studied the prevalence of 22q11.2 deletion syndrome in 378 Iranian patients during a 5-year period, including 291 patients affected with cleft palate only without cleft lip (CPO) and 87 patients affected with velopharyngeal incompetence (VPI) and/or submucous cleft palate (SMCP). DNA copy number was analyzed with multiplex ligation-dependent probe amplification (MLPA) technique.

RESULTS

In our study, 15/378 (3.97%) patients with palatal anomalies showed 22q11.2 deletion. Interestingly, this prevalence between syndromic patients was 15/104 (14.42%).

CONCLUSION

It seems that SMCP or VPI, in addition to one or more another features of 22q11.2 deletions, especially developmental delay, may be good criteria for molecular investigation of 22q11.2 region.

摘要

背景

22q11.2微缺失综合征是与学习障碍、发育迟缓、免疫缺陷、低钙血症和腭裂相关的最常见的多基因疾病。找到一些有效的婴儿22q11.2缺失综合征筛查标准对早期诊断和治疗非常有帮助。

材料与方法

由于69%的22q11.2缺失个体存在腭部异常，我们在5年期间研究了378名伊朗患者中22q11.2缺失综合征的患病率，其中包括291名单纯腭裂（CPO）患者和87名腭咽功能不全（VPI）和/或黏膜下腭裂（SMCP）患者。采用多重连接依赖探针扩增（MLPA）技术分析DNA拷贝数。

结果

在我们的研究中，15/378（3.97%）例腭部异常患者显示22q11.2缺失。有趣的是，综合征患者中的这一患病率为15/104（14.42%）。

结论

除了22q11.2缺失的一个或多个其他特征（尤其是发育迟缓）外，SMCP或VPI似乎可能是对22q11.2区域进行分子研究的良好标准。