Fetuses with a single umbilical artery have a risk of increased chromosomal anomalies and congenital malformations. Ring chromosomes are rare and the phenotypic and clinical characteristics of affected individuals show great variability depending on the quantity of the lost critical genes or gains during the formation of the ring or due to mitotic instability. Ring chromosome 18 [r(18)] is characterized by short stature, craniofacial dysmorphism, mental and motor retardation, autoimmune disorders, extremity anomalies, dermal lesions, structural heart malformations, and kidney abnormalities. In this study, the clinical findings of a female patient who had a single umbilical artery in the prenatal period and was diagnosed as de novo r(18) by molecular karyotype analysis were compared with those in the literature. A detailed ultrasonographic examination of the fetus with a single umbilical artery may enable the detection of additional anomalies and thus the early diagnosis of chromosomal anomalies may be possible with prenatal genetic analysis.
Mol Syndromol

中文翻译：

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产前检出单人脐带动脉18环染色体1例

具有单条脐动脉的胎儿有增加染色体异常和先天性畸形的风险。环状染色体很少，受影响个体的表型和临床特征表现出很大的变异性，这取决于环状形成过程中或由于有丝分裂不稳定而丢失的关键基因或获得的数量。环形染色体18 [r（18）]的特征是身材矮小，颅面畸形，精神和运动发育迟缓，自身免疫性疾病，四肢异常，皮肤病变，心脏结构畸形和肾脏异常。在这项研究中，将女性患者的临床发现与文献中的结果进行了比较，该女性患者在产前只有一条脐动脉并且通过分子核型分析被诊断为de novo r（18）。
摩尔综合症