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

• DOI: 10.3760/cma.j.issn.1007-9408.2018.12.005
• Publication Date: 2018-12-16
• Authors: Tingting Song; Yu Li; Yunyun Zheng; Shanning Wan; Yinghui Dang; Ying Xu; Jiao Zheng
• Keywords: Ring chromosome; Chromosome 18

We hereby reported a case of ring chromosome 18 complicated by the deletion 18p11.32p11.31 and 18q21.33q23 diagnosed prenatally G-banding karyotype chromosomal microarray analysis (CMA). Ultrasound scan indicated single umbilical artery intrauterine growth retardation at second trimester. The result karyotyping was 46, XN, r(18)(p11.3q21.3) CMA that there 3.3 Mb 16.9 18q21.33q23. All these suggested fetus might present with clinical manifestations such as retardation, epilepsy, speech delay hormone deficiency after birth, so couple decided to terminate pregnancy genetic counseling.

Key words: Chromosomes, human, pair 18; Ring chromosomes; Chromosome deletion; Prenatal diagnosis