Abstract：
The 18q12.3 region contains the SET binding protein 1 (SETBP1) gene. SETBP1 mutations or deletions are associated with Schinzel-Giedion syndrome or intellectual developmental disorder, autosomal dominant 29. We report the prenatal diagnosis and genetic counseling of a patient with a maternally inherited 18q12.3 microdeletion. In this family, the mother and son carried the same microdeletion. Chromosomal microdeletions and microduplications are difficult to detect using conventional cytogenetics, whereas the combination of prenatal ultrasound, karyotype analysis, chromosomal microarray analysis, and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.
摘要：
18q12.3区域包含SET结合蛋白1(SETBP1)基因。SETBP1突变或缺失与Schinzel-Giedion综合征或智力发育障碍有关，常染色体显性29.我们报告了一名母系遗传的18q12.3微缺失患者的产前诊断和遗传咨询。在这个家庭里,母亲和儿子携带相同的微删除。使用常规的细胞遗传学很难检测染色体微缺失和微重复,而产前超声的组合，核型分析,染色体微阵列分析,遗传咨询有助于染色体微缺失/微重复的产前诊断。
