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3q部分三体是罕见的染色体异常综合征,3号染色体臂间位倒是一种少见的染色体倒位。本文通过遗传咨询和细胞遗传学研究,诊断了一个3q三体综合征患儿。通过家系调查,进一步发现患儿母亲是3号染色体臂间倒位携带者,对她的再次妊娠,我们成功地进行了产前诊断,确保了优生。现将
3q part of the trisomy is a rare chromosomal abnormality syndrome, interchromosomal arm 3 is a rare chromosomal inversion. This article diagnoses a child with 3q trisomy by genetic counseling and cytogenetics. Through the pedigree investigation, we further found that the mother of a child is an internodal transposition carrier on chromosome 3. For her second pregnancy, we successfully conducted prenatal diagnosis to ensure eugenics. Now