Giardino D, Corti C, Ballarati L, Finelli P, Valtorta C, Botta G, Giudici M, Grosso E, Larizza L
Laboratorio di Citogenetica Medica, IRCCS Istituto Auxologico Italiano, Milano, Italy.
Prenat Diagn. 2006 Jun;26(6):565-70. doi: 10.1002/pd.1460.
To describe the cytogenetic and FISH characterization of a prenatally diagnosed de novo complex chromosome rearrangement (CCR), showing the involvement of four chromosomes and six breakpoints, and review the literature concerning prenatally detected CCRs in order to obtain insights into addressing karyotype-phenotype correlations in prenatal genetic counseling.
Conventional protocols were used to set up cultures and chromosome preparations. Commercial and homemade probes were used for the FISH analyses.
An apparently balanced de novo t(4;10;20) was prenatally identified by means of cytogenetic analysis. FISH revealed a rearrangement mediated by six breakpoints and the insertion of chromosome 8 material within the 4q region. The pregnancy was interrupted. The fetus showed malformations and anomalous cortical neuron migration. The assembled list of 20 prenatally detected CCRs points to the preferential involvement of chromosomes 4, 6 and 14. The involvement of chromosome 20 is described here for the first time.
FISH analysis is essential for the accurate definition of a complex rearrangement. Phenotype description of fetuses carrying CCRs investigated by means of molecular cytogenetic techniques may contribute to improving and personalizing genetic counseling in prenatal diagnosis.
描述一例产前诊断的新发复杂染色体重排（CCR）的细胞遗传学和荧光原位杂交（FISH）特征，该重排涉及四条染色体和六个断点，并回顾有关产前检测到的CCR的文献，以便深入了解产前遗传咨询中解决核型与表型相关性的问题。
采用常规方案建立培养物和制备染色体。使用商业和自制探针进行FISH分析。
通过细胞遗传学分析产前鉴定出一个明显平衡的新发t(4;10;20)。FISH显示由六个断点介导的重排以及8号染色体物质插入4q区域。妊娠终止。胎儿表现出畸形和异常的皮质神经元迁移。汇总的20例产前检测到的CCR列表表明4号、6号和14号染色体更易受累。20号染色体的受累情况在此首次描述。
FISH分析对于准确界定复杂重排至关重要。通过分子细胞遗传学技术研究携带CCR的胎儿的表型描述可能有助于改善产前诊断中的遗传咨询并使其个性化。
