核型
环状染色体
产前诊断
18号染色体
染色体
胎儿
遗传学
染色体易位
遗传咨询
生物
怀孕
医学
基因
作者
Tingting Song,Liang Yu,Yijing Zheng,Shanning Wan,Yinghui Dang,Ying Xu,Jin Zheng
出处
期刊:Chinese Journal of Perinatal Medicine
日期:2018-12-16
卷期号:21 (12): 817-821
标识
DOI:10.3760/cma.j.issn.1007-9408.2018.12.005
摘要
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.
Key words:
Chromosomes, human, pair 18; Ring chromosomes; Chromosome deletion; Prenatal diagnosis
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