Prenatal diagnosis and genetic analysis of a special case with complex structural rearrangements of chromosome 8
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目的 报告1例特殊的8号染色体复杂结构重排的产前诊断病例。 方法 选取2021年5月18日于绍兴市妇幼保健院就诊的1例孕妇为研究对象。对颈后透明带(NT)增厚的胎儿进行羊水染色体核型分析、染色体微阵列分析(CMA)以及荧光原位杂交(FISH)检测。 结果 羊水核型检查发现胎儿8号染色体短臂增长，FISH检测发现其8号短臂末端存在着丝粒信号，但未见亚端粒信号。CMA检测证实8号染色体短臂存在部分缺失[8p23.3(208049_2256732)×1]以及部分重复[8p23.3p23.2(2259519_3016818)×3],长臂存在部分重复[8q11.1q12.2(45951900_60989083)×3]。 结论 本研究胎儿8号染色体复杂结构重排与常见的inv dup del(8p)形成机制有所不同。 Objective To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8. Methods Chromosome karyotyping, chromosomal microarray analysis(CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness. Results The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed centromeric signal at the end of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3]. Conclusion The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).
Objective To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8. Methods Chromosome karyotyping, chromosomal microarray analysis(CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness. Results The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed centromeric signal at the end of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3]. Conclusion The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).
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