Reish O, Regev M, Kanesky A, Girafi S, Mashevich M
Genetics Institute, Assaf Harofeh Medical Center, Zerifin, Israel.
Cytogenet Genome Res. 2011;133(2-4):184-9. doi: 10.1159/000323504. Epub 2011 Jan 19.
Following the observation detected in a previous study that X chromosome monosomy in Turner's syndrome genotypes was associated with a sporadic loss and/or gain of other chromosomes, we studied here whether this instability is a consistent finding in constitutional autosomal trisomies. We used PHA-stimulated lymphocytes derived from 14 patients (10 patients with trisomy 21, 2 with trisomy 18, and 2 with trisomy 13). Fourteen healthy controls were compared. Fluorescence in situ hybridization, applied at interphase cells, was used to evaluate the level of aneuploidy for 3 randomly selected chromosomes (autosomes 8, 15, and 16) in each sample. For each tested chromosome, our results showed a significantly higher level of aneuploid cells in the samples from the patients than in those from controls, with no difference between the patient groups. The mean level of aneuploid cells (percentage) for all 3 tested autosomes was almost twice as high in the patient samples as in the control samples. The aneuploidy level was mainly due to monosomy, which was significantly higher in the samples from the patients than in those from controls for each one of the tested chromosomes, with no difference between the patient groups. The mean level of monosomic cells (percentage) for all 3 tested chromosomes was almost twice as high in the patient samples as in the control samples. Our study shows that various constitutional autosomal trisomies are associated with an increased frequency of non-chromosome specific aneuploidy and is a continuation of the previous study documenting sporadic aneuploidy in Turner's sample cells. It is possible that primary aneuploid cells destabilize their own genome resulting in variable aneuploidy of other chromosomes. It is also possible that one or several common factor(s) is/are involved in both constitutional and sporadic aneuploidy.
在先前的一项研究中观察到，特纳综合征基因型中的X染色体单体性与其他染色体的散发性丢失和/或增加有关，在此我们研究了这种不稳定性在先天性常染色体三体中是否是一个一致的发现。我们使用了来自14名患者（10名21三体患者、2名18三体患者和2名13三体患者）的PHA刺激淋巴细胞。与14名健康对照进行了比较。应用于间期细胞的荧光原位杂交用于评估每个样本中3条随机选择的染色体（常染色体8、15和16）的非整倍体水平。对于每条测试染色体，我们的结果显示患者样本中的非整倍体细胞水平显著高于对照样本，患者组之间无差异。所有3条测试常染色体的非整倍体细胞平均水平（百分比）在患者样本中几乎是对照样本中的两倍。非整倍体水平主要归因于单体性，对于每条测试染色体，患者样本中的单体性显著高于对照样本，患者组之间无差异。所有3条测试染色体的单体细胞平均水平（百分比）在患者样本中几乎是对照样本中的两倍。我们的研究表明，各种先天性常染色体三体与非染色体特异性非整倍体频率增加有关，并且是先前记录特纳综合征样本细胞中散发性非整倍体的研究的延续。可能是原发性非整倍体细胞使其自身基因组不稳定，导致其他染色体出现可变的非整倍体。也有可能一个或几个共同因素参与了先天性和散发性非整倍体。
