Abstract：
OBJECTIVE: Tetrasomy 9p is a rare fetal condition. Cases are usually mosaic. Here, we present a non-mosaic tetrasomy 9p case with cytogenetic analysis, fluorescence in situ hybridization, microarray data, ultrasound findings, and phenotypic presentation.
METHODS: A pregnancy was referred to cytogenetic analysis because of increased nuchal translucency in prenatal ultrasound at 13 weeks of gestation. Prenatal laboratory analysis revealed an extra marker chromosome with a non-mosaic pattern. Ultrasonographic findings were unilateral cleft lip and palate, micrognathia, and atrioventricular septal defect at the 17th week; additionally, ventriculomegaly, left axis deviation of the fetal heart, and a single umbilical artery were determined at the 23rd week.
CONCLUSIONS: Phenotypic severity in non-mosaic tetrasomy 9p widely differs depending on the chromosomal content. We recommend performing appropriate genetic tests in those pregnancies with the suspicion of tetrasomy 9p, evaluating the mosaic state, and following those cases with detailed ultrasonographic examinations.
METHODS: A pregnancy was referred to cytogenetic analysis because of increased nuchal translucency in prenatal ultrasound at 13 weeks of gestation. Prenatal laboratory analysis revealed an extra marker chromosome with a non-mosaic pattern. Ultrasonographic findings were unilateral cleft lip and palate, micrognathia, and atrioventricular septal defect at the 17th week; additionally, ventriculomegaly, left axis deviation of the fetal heart, and a single umbilical artery were determined at the 23rd week.
CONCLUSIONS: Phenotypic severity in non-mosaic tetrasomy 9p widely differs depending on the chromosomal content. We recommend performing appropriate genetic tests in those pregnancies with the suspicion of tetrasomy 9p, evaluating the mosaic state, and following those cases with detailed ultrasonographic examinations.
摘要：
目的：9p四体是一种罕见的胎儿疾病。案件通常是马赛克。这里,我们提出了一个非马赛克四体9p病例，并进行了细胞遗传学分析，荧光原位杂交,微阵列数据，超声检查结果，和表型呈现。
方法：由于妊娠13周时的产前超声检查中颈部透明层增加，因此将妊娠称为细胞遗传学分析。产前实验室分析显示，具有非镶嵌模式的额外标记染色体。超声检查结果为单侧唇腭裂，小颌畸形,和房室间隔缺损在第17周;此外,脑室肿大,胎儿心脏的左轴偏差，在第23周确定了单脐动脉。
结论：非镶嵌型四体9p的表型严重程度因染色体含量而异。我们建议对那些怀疑为9p四体的孕妇进行适当的基因测试，评估马赛克状态，并对这些病例进行详细的超声检查。
方法：由于妊娠13周时的产前超声检查中颈部透明层增加，因此将妊娠称为细胞遗传学分析。产前实验室分析显示，具有非镶嵌模式的额外标记染色体。超声检查结果为单侧唇腭裂，小颌畸形,和房室间隔缺损在第17周;此外,脑室肿大,胎儿心脏的左轴偏差，在第23周确定了单脐动脉。
结论：非镶嵌型四体9p的表型严重程度因染色体含量而异。我们建议对那些怀疑为9p四体的孕妇进行适当的基因测试，评估马赛克状态，并对这些病例进行详细的超声检查。
