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目的分析14例染色体不平衡易位胎儿的遗传变异方式,为其家庭再次妊娠的复发风险评估提供依据。方法应用染色体核型分析结合单核苷酸多态微阵列芯片(single nucleotide polymorphism array,SNP-Array)对胎儿及其父母进行全基因组DNA扫描分析。结果 14例SNP芯片检测存在染色体不平衡易位的胎儿包括多种常见的临床综合征,核型分析结果显示11例核型异常,3例正常。加做3例核型正常胎儿的父母芯片,结果均显示正常,根据芯片结果提示重新分析,确诊3例胎儿实际为亚显微的染色体不平衡易位者,父母为隐性易位携带者。最终确诊遗传来源11例,母源性9例,父源性2例,新发突变3例。结论确定不平衡易位胎儿的遗传变异方式,对其家庭的复发风险评估提供依据,尤其是亚显微的染色体不平衡改变,对隐性易位携带者的复发风险评估有重要价值。
Objective To analyze the genetic variation patterns of 14 fetuses with unbalanced chromosomal translocations and to provide evidence for the risk assessment of recurrence in the second pregnancy of their families. Methods Whole genome DNA scanning analysis of fetus and their parents was performed by chromosome karyotype analysis combined with single nucleotide polymorphism array (SNP-Array). Results Fourteen SNPs detected fetuses with unbalanced chromosomal translocations, including many common clinical syndromes. Karyotype analysis revealed 11 abnormal karyotypes and 3 normal cases. Plus 3 cases of normal nuclear karyotype of the parent chip, the results were normal, according to the chip prompted the re-analysis prompted the diagnosis of 3 cases of fetal sub-microscopic heterozygous translocator of translocation, parents of implicit translocation carriers. The final diagnosis of genetic origin in 11 cases, 9 maternal, 2 paternity, 3 new mutations. Conclusion Identifying the genetic variation pattern of imbalanced translocations fetuses provides a basis for assessing the risk of recurrence in their families. In particular, sub-microsatellite chromosome imbalances may play an important role in assessing the risk of relapse in implicit translocations.