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首页> 外文期刊>Molecular syndromology >Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias?
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Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias?

机译：培养的生殖器皮肤成纤维细胞中的四倍体/二倍体镶嵌性：是否与阴囊发育不良有关？

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Tetraploid/diploid mosaicism is a rare chromosomal abnormality that is infrequently reported in patients with severe developmental delay, growth retardation, and short life span. Here, we present a 6-year-old patient with severe penoscrotal hypospadias and a coloboma of the left eye but with normal growth, normal psychomotor development, and without dysmorphisms. We considered a local, mosaic sex chromosomal aneuploidy as a possible cause of his genital anomaly and performed karyotyping in cultured fibroblasts from the genital skin, obtained during surgical correction. Tetraploid/diploid (92,XXYY/46,XY) mosaicism was found in 43/57 and 6/26 metaphases in 2 separate cultures, respectively. Buccal smear cells, blood lymphocytes, and cells from urine sediment all showed diploidy. We investigated whether this chromosomal abnormality could be found in other patients with severe hypospadias and karyotyped genital fibroblasts of 6 additional patients but found only low frequencies (<11%) of tetraploid cells, not statistically different from those found in control males with no hypospadias. This is the first time tetraploid mosaicism is found in such a high percentage in a patient without psychomotor retardation, dysmorphisms or growth delay. Although the relationship between this observed mosaicism in cultured cells and the underlying pathogenetic mechanism in penoscrotal hypospadias remains to be determined, our data clearly illustrate the power of cytogenetic techniques in detecting mosaicism compared to next-generation sequencing techniques, in which DNA pooled from multiple cells is used.
机译：四倍体/二倍体镶嵌症是一种罕见的染色体异常，在严重的发育延迟，生长迟缓和寿命短的患者中很少报道。在这里，我们介绍了一名6岁的患者，患有严重的阴囊尿道下裂和左眼球状瘤，但生长正常，精神运动发育正常，没有畸形。我们认为局部马赛克性染色体非整倍性可能是其生殖器异常的可能原因，并在手术矫正过程中对来自生殖器皮肤的培养成纤维细胞进行了核型分析。四倍体/二倍体（92，XXYY / 46，XY）镶嵌在两种单独的培养物中分别发现于43/57和6/26中期。颊涂片细胞，血淋巴细胞和尿沉渣细胞均显示二倍体。我们调查了是否在其他严重尿道下裂和其他6例患者的核型生殖器成纤维细胞的患者中发现了这种染色体异常，但发现四倍体细胞的频率较低（<11％），与无尿道下裂的男性相比没有统计学差异。这是首次在没有精神运动迟缓，畸形或生长延迟的患者中以如此高的百分比发现四倍体镶嵌症。尽管观察到的在培养细胞中的镶嵌性与阴囊尿道下裂的潜在致病机制之间的关系尚待确定，但与下一代测序技术相比，我们的数据清楚地说明了细胞遗传学技术在检测镶嵌性中的作用，后者是从多个细胞中收集DNA用来。

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