Abstract

Background:Patients with 17q23.1-q23.2 microdeletion syndrome have common features, including mild to moderate developmental delay; microcephaly; heart defects; and hand, foot, and limb abnormalities. Case Report: We describe a fetus with 2.14 Mb microdeletion involving 17q23.1-q23.2 and presenting with primary bilateral lung hypoplasia in utero. The fetal biometry measurement and estimated fetal weight had a two-week delay but they were still above the 10th percentile. There were no other structural abnormalities. Primary lung hypoplasia is infrequent and has a poor prognosis, especially when bilateral. There are no reports of fetal survival with primary bilateral lung hypoplasia. Conclusion: This is the first report of the coexistence of primary lung hypoplasia and chromosome 17q23.1-q23.2 microdeletion detected during fetal life.

摘要

背景： 17q23.1-q23.2微缺失综合征患者具有共同特征，包括轻度至中度发育迟缓；小头畸形；心脏缺陷；以及手、足和四肢异常。病例报告：我们描述了一个涉及 17q23.1-q23.2 的 2.14 Mb 微缺失胎儿，在子宫内表现为原发性双侧肺发育不全。胎儿生物测量和估计胎儿体重有两周的延迟，但仍高于第 10 个百分位。没有其他结构异常。原发性肺发育不全很少见且预后不良，尤其是双侧肺发育不全。没有关于原发性双侧肺发育不全的胎儿存活的报道。结论：这是首次报道在胎儿期检测到原发性肺发育不全和染色体 17q23.1-q23.2 微缺失共存。