Clinical and genetic analysis on 5 cases with neonatal 22q11.2 deletion syndrome

doi:10.3969/j.issn.1004-583X.2022.06.010

Abstract

Abstract:

Objective To analyze the clinical and genetic characteristics of 22q11.2 deletion syndrome (22q11.2DS). Methods The 22q11.2DS children admitted by the Department of Neonatology of the First Affiliated Hospital of Xinxiang Medical University and Division of Neonatology of the Second Xiangya Hospital of Central South University from February 2018 to October 2021 were selected, and their clinical manifestations, diagnosis and genetic testing results were retrospectively analyzed. Results There were 5 cases of 22q11.2DS neonates, 3 male cases and 2 female cases, 2 cases of premature babies and 4 cases of cesarean sections. Undersized or absent thymus was found in 4 cases by bedside chest radiography or ultrasonic examination, and one absent thymus was found during operation. Four cases were found to have congenital heart disease (2 cases with fallot's tetralogy, 2 cases with ventricular septal defect combined with atrial septal defect). There were 2 cases with intractable infection and 2 cases with recurrent hypocalcemia. The genetic testing results showed that there were 4 cases with novel variation, 1 case with maternal inheritance, 3 cases with absent fragment greater than 2.45 Mb and 2 cases with absent fragment in about 3.0 Mb. Conclusion The 22q11.2DS in the neonatal period are mainly manifested as congenital heart disease and undersized or absent thymus. The newborn suspected of 22q11.2DS should be diagnosed by genetic testing to the earliest convenience to guide further therapy.

Key words: 22q11.2 deletion syndrome, neonates, congenital heart disease, thymus gland

CLC Number:

R596

Cui Qingyang, Yang Yonghui, Hu Jintao, Sang Guimei, Sun Yazhou, Li Wen, He Xiaori. Clinical and genetic analysis on 5 cases with neonatal 22q11.2 deletion syndrome[J]. Clinical Focus, 2022, 37(6): 534-538.

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URL: https://huicui.hebmu.edu.cn/EN/10.3969/j.issn.1004-583X.2022.06.010

https://huicui.hebmu.edu.cn/EN/Y2022/V37/I6/534

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References 23

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病例	年龄	临床表现		辅助检查
病例	年龄	先心病	感染情况	胸片或彩色超声	电解质	淋巴细胞亚群
1	13天	VSD并ASD	不易控制	无异常	正常	CD3⁺、CD4⁺及CD8⁺均低下
2	21 min	PFO	不易控制	胸腺小	反复低钙	CD3⁺、CD4⁺及CD8⁺均低下
3	13 min	TOF	可控制	胸腺小	正常	CD3⁺、CD4⁺及CD8⁺均低下
4	35 min	TOF	可控制	胸腺缺如	反复低钙	CD8⁺低下
5	1月17天	VSD并ASD	可控制	胸腺缺如	正常	未做

病例	年龄	临床表现		辅助检查
病例	年龄	先心病	感染情况	胸片或彩色超声	电解质	淋巴细胞亚群
1	13天	VSD并ASD	不易控制	无异常	正常	CD3⁺、CD4⁺及CD8⁺均低下
2	21 min	PFO	不易控制	胸腺小	反复低钙	CD3⁺、CD4⁺及CD8⁺均低下
3	13 min	TOF	可控制	胸腺小	正常	CD3⁺、CD4⁺及CD8⁺均低下
4	35 min	TOF	可控制	胸腺缺如	反复低钙	CD8⁺低下
5	1月17天	VSD并ASD	可控制	胸腺缺如	正常	未做