胎儿多发畸形患者的母源性 18 号染色体臂间倒位导致的部分 dup(18p)/del(18q)的产前诊断和分子细胞遗传学特征。
Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies.
机构信息
Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
出版信息
Taiwan J Obstet Gynecol. 2022 May;61(3):504-509. doi: 10.1016/j.tjog.2022.03.018.
OBJECTIVE
The 18q terminal deletion with inverted duplication is an extremely rare abnormality, with only three confirmed cases in Europe to date. Here, we report, for the first time, a case of de novo 18q inv-dup-del in a Turkish pregnant woman.
CASE REPORT
A 30-year-old pregnant woman was referred for genetic analysis at her 25th gestational week due to foetal diaphragmatic hernia and rocker bottom feet. Cytogenetic analysis of the parents revealed a karyotype of 46,XX,inv(18) (p11.3q21.3) of the mother and a normal karyotype of the father. The foetal karyotype was defined as 46,XX,rec(18)del(18q)inv(18) (p11.3q21.3)mat.
CONCLUSION
To our knowledge, this is the first report of a prenatal diagnosis. Genetic counselling issues for this family, particularly affected individuals, include an increased likelihood of reduced fertility and a risk of recurrence of parental inversion equal to 1/2 in surviving offspring.
目的
18q 端粒缺失伴倒位重复是一种极其罕见的异常，迄今为止在欧洲仅确诊了三例。在此，我们首次报告了一例土耳其孕妇新发的 18q 倒位重复缺失。
病例报告
一名 30 岁孕妇在妊娠 25 周时因胎儿膈疝和摇椅底足而被转介进行遗传分析。父母的细胞遗传学分析显示母亲的核型为 46,XX,inv(18) (p11.3q21.3)，父亲的核型正常。胎儿核型定义为 46,XX,rec(18)del(18q)inv(18) (p11.3q21.3)mat。
结论
据我们所知，这是首例产前诊断报告。该家系的遗传咨询问题，特别是受影响个体，包括生育能力降低的可能性增加，以及存活后代中父母倒位重复的复发风险为 1/2。
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