Atrial septal defect and hydronephrosis associated with 2q13 microdeletion: a case report and literature review / 中华围产医学杂志

ABSTRACT

Objective:To investigate the clinical and genetic features of 2q13 microdeletion.Methods:This study retrospectively analyzed the clinical and genetic features and prognosis of an infant who was admitted to the Fourth People's Hospital of Zhenjiang Affiliated to Jiangsu University and diagnosed with 2q13 microdeletion in October 2021. A literature review on the clinical and genetic characteristics of 2q13 microdeletion was conducted by searching CNKI, Wanfang database, Yiigle, VIP database, PubMed, Embase, and Cochrane Library databases up to March 2023, with "2q13 microdeletion" and "2q13" (both in Chinese and English) as the keywords.Results:(1) Case report: A fetus was found to have mild aortic arch stenosis and left hydronephrosis by prenatal ultrasound at 24 +2 gestational weeks. Fetal chromosomal microarray analysis following amniocentesis at 27 +6 weeks of gestation revealed a 2.23 Mb deletion at 2q13q14.1 chromosome, considered a possible pathogenic copy number variation. The newborn was delivered by cesarean section at 38 +5 weeks of gestation. Echocardiography indicated ostium secundum atrial septal defect and ultrasound showed left hydronephrosis. Other examinations detected no abnormalities. Results of imaging reexamination showed no significant changes when followed up by telephone at 13 months after birth, and a continued follow-up was recommended by the pediatrician. No other developmental abnormalities were found. (2) Literature review: There were 64 patients in 32 retrieved literature, and the one case in this report results in 65 cases. The 2q13 microdeletions can be de novo (15.6%, 10/64) or inherited from one of the parents with normal or abnormal phenotypes (35.9%, 23/64). The clinical manifestations include developmental delay (53.3%, 16/30), craniofacial abnormalities (56.8%, 21/37), and congenital heart diseases (35.0%, 14/40). In addition, some cases exhibited mental neurological symptoms with age, such as attention deficit hyperactivity disorder (48.0%, 12/25), autism spectrum disorders (35.7%, 10/28), etc. Conclusions:The 2q13 microdeletion is complex in its clinical characteristics and incomplete in penetrance. Chromosomal microarray analysis is recommended for confirming diagnosis when related phenotypes are identified prenatally. Some cases of 2q13 microdeletion will show neuropsychiatric symptoms with age, suggesting that long-term follow-up is necessary.