Eras Nazan
Department of Medical Genetics, Faculty of Medicine, Mersin University, Mersin, Turkey.
Mol Syndromol. 2020 Nov;11(4):217-222. doi: 10.1159/000509646. Epub 2020 Sep 10.
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.
单脐动脉胎儿有染色体异常和先天性畸形增加的风险。环状染色体很少见，受影响个体的表型和临床特征因环状形成过程中丢失的关键基因数量或增加情况，或由于有丝分裂不稳定性而表现出很大差异。18号环状染色体[r(18)]的特征为身材矮小、颅面畸形、智力和运动发育迟缓、自身免疫性疾病、肢体异常、皮肤病变、心脏结构畸形和肾脏异常。在本研究中，将一名产前有单脐动脉且经分子核型分析诊断为新发r(18)的女性患者的临床发现与文献中的发现进行了比较。对单脐动脉胎儿进行详细的超声检查可能有助于发现其他异常，从而通过产前基因分析实现染色体异常的早期诊断。
