Wang Xuezhen, Wu Jiebin, Pang Min, Liu Ying, Zhai Jingfang
Graduate School of Bengbu Medical College, Bengbu, Anhui, China; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China; Key Laboratory of Brain Diseases Bioinformation of Xuzhou Medical University, Xuzhou, Jiangsu, China.
Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China; Key Laboratory of Brain Diseases Bioinformation of Xuzhou Medical University, Xuzhou, Jiangsu, China.
Taiwan J Obstet Gynecol. 2024 Mar;63(2):238-241. doi: 10.1016/j.tjog.2024.01.021.
Kleefstra syndrome (KS), formerly known as 9q subtelomeric deletion syndrome, is characterized by multiple structural abnormalities. However, most fetuses do not have obvious abnormal phenotypes. In this study, the fetus with KS presented with multiple system structural anomalies, and we aimed to explore the genotype-phenotype correlations of KS fetuses.
Multiple systematic structural anomalies, including severe intrauterine growth restriction (IUGR) and cardiac defects, were detected by ultrasound in the fetus at 33 + 5 weeks' gestation. These abnormalities may be caused by the pathogenic deleted fragment at 9q34.3, including the euchromatic histone methyltransferase 1 (EHMT1) and collagen type V alpha 1 chain (COL5A1) genes, detected by copy number variation sequencing (CNV-seq).
It is essential for clinicians to perform CNV-seq combined with multidisciplinary consultation for suspected KS fetuses, especially those with multiple systematic structural anomalies.
克莱夫斯特拉综合征（KS），以前称为9q亚端粒缺失综合征，其特征为多种结构异常。然而，大多数胎儿并无明显异常表型。在本研究中，患有KS的胎儿出现了多个系统的结构异常，我们旨在探究KS胎儿的基因型-表型相关性。
在妊娠33 + 5周时，通过超声检测到胎儿存在多种系统结构异常，包括严重的宫内生长受限（IUGR）和心脏缺陷。这些异常可能是由9q34.3处的致病性缺失片段引起的，该片段包含通过拷贝数变异测序（CNV-seq）检测到的常染色质组蛋白甲基转移酶1（EHMT1）和Ⅴ型胶原α1链（COL５A1）基因。
对于疑似KS的胎儿，尤其是那些有多个系统结构异常的胎儿，临床医生进行CNV-seq并结合多学科会诊至关重要。
