16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.
16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.
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早产儿 16q24.1 微缺失：基于阵列的比较基因组杂交在新生儿持续性肺动脉高压中的有用性。
DOI：
10.1097/pcc.0b013e3182192c96
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发表时间：
2011
期刊：
影响因子：
--
通讯作者：
Fellmann,Florence
中科院分区：
文献类型：
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作者：
Zufferey,Flore;Martinet,Danielle;Osterheld,Maria-Chiara;Niel-Butschi,Florence;Giannoni,Eric;Schmutz,NathalieBesuchet;Xia,Zhilian;Beckmann,JacquesS;Shaw-Smith,Charles;Stankiewicz,Pawel;Langston,Claire;Fellmann,Florence
目的：报告16q24。1缺失的早产儿，证明了阵列为基础的比较基因组杂交在新生儿持续性肺动脉高压和多种先天性畸形的实用性。设计：描述性病例报告。设置：遗传科和新生儿重症监护室的三级保健儿童医院。干预措施：无。患者：我们报告的情况下，早产男婴，出生在妊娠26周。在妊娠19周时诊断出心脏畸形和双侧肾积水。核型分析正常，22q11。2荧光原位杂交分析排除了微缺失。因胎儿窘迫行剖宫产术。病人持续肺动脉高压机械通气和一氧化氮治疗反应迟钝，并在16小时的生命。测量和主要结果：尸检发现部分房室管畸形，并显示双侧肾盂肾盏系统扩张，双侧输尿管狭窄和环状胰腺。基于阵列的比较基因组杂交分析（Agilent oligoNT 44K，Agilent Technologies，Santa Clara，CA）显示了在16q24中包含叉头盒基因簇的间质微缺失。1.肺显微镜检查的回顾显示肺泡毛细血管发育不良伴肺静脉错位的特征性特征。一些功能不太突出，由于孕龄。结论：我们的文献回顾表明，肺泡毛细血管发育不良与肺静脉错位是罕见的，但可能被低估。早产并不常见，组织学特征难以解释。在我们的病例中，基于阵列的比较基因组杂交显示了16q24。1缺失，导致最终诊断为肺泡毛细血管发育不良伴肺静脉错位。它强调了基于阵列的比较基因组杂交分析作为诊断工具的有用性，对难治性持续性肺动脉高压和多种先天性畸形的新生儿的预后和管理决策都有影响。
Objective:Report of a 16q24. 1 deletion in a premature newborn, demonstrating the usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn and multiple congenital malformations.Design:Descriptive case report.Setting:Genetic department and neonatal intensive care unit of a tertiary care children's hospital.Interventions:None.Patient:We report the case of a preterm male infant, born at 26 wks of gestation. A cardiac malformation and bilateral hydronephrosis were diagnosed at 19 wks of gestation. Karyotype analysis was normal, and a 22q11. 2 microdeletion was excluded by fluorescence in situ hybridization analysis. A cesarean section was performed due to fetal distress. The patient developed persistent pulmonary hypertension unresponsive to mechanical ventilation and nitric oxide treatment and expired at 16 hrs of life.Measurements and Main Results:An autopsy revealed partial atrioventricular canal malformation and showed bilateral dilation of the renal pelvocaliceal system with bilateral ureteral stenosis and annular pancreas. Array-based comparative genomic hybridization analysis (Agilent oligoNT 44K, Agilent Technologies, Santa Clara, CA) showed an interstitial microdeletion encompassing the forkhead box gene cluster in 16q24. 1. Review of the pulmonary microscopic examination showed the characteristic features of alveolar capillary dysplasia with misalignment of pulmonary veins. Some features were less prominent due to the gestational age.Conclusions:Our review of the literature shows that alveolar capillary dysplasia with misalignment of pulmonary veins is rare but probably underreported. Prematurity is not a usual presentation, and histologic features are difficult to interpret. In our case, array-based comparative genomic hybridization revealed a 16q24. 1 deletion, leading to the final diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins. It emphasizes the usefulness of array-based comparative genomic hybridization analysis as a diagnostic tool with implications for both prognosis and management decisions in newborns with refractory persistent pulmonary hypertension and multiple congenital malformations.