Prenatal diagnosis of fetal ring chromosome 18 with deletion: a case report

VernacularTitle:产前诊断胎儿环状18号染色体并缺失一例
Author: Tingting SONG ¹ ; Yu LI ; Yunyun ZHENG ; Shanning WAN ; Yinghui DANG ; Ying XU ; Jiao ZHENG ; Jianfang ZHANG
Author Information

1. 空军军医大学第一附属医院妇产科
Keywords: Chromosomes,human,pair 18; Ring chromosomes; Chromosome deletion; Prenatal diagnosis
From: Chinese Journal of Perinatal Medicine 2018;21(12):817-821
CountryChina
Language:Chinese
Abstract: We hereby reported a case of ring chromosome 18 complicated by the deletion of 18p11.32p11.31 and 18q21.33q23 diagnosed prenatally by G-banding karyotype and chromosomal microarray analysis (CMA). Ultrasound scan indicated a single umbilical artery and intrauterine growth retardation at the second trimester. The result of G-banding karyotyping was 46, XN, r(18)(p11.3q21.3) and CMA indicated that there was a 3.3 Mb deletion at 18p11.32p11.31 and a 16.9 Mb deletion at 18q21.33q23. All these suggested that the fetus might present with clinical manifestations such as growth retardation, epilepsy, speech delay and growth hormone deficiency after birth, so the couple decided to terminate the pregnancy after genetic counseling.