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首页> 外文期刊>Case Reports in Genetics >Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood
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Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

机译：外周血中12p复制/复制染色体结构异常的持久镶嵌

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摘要

We present a rare case of mosaicism for a structural abnormality of chromosome 12 in a patient with phenotypic features of Pallister-Killian syndrome. A six-month-old child with dysmorphic features, exotropia, hypotonia, and developmental delay was mosaic for both a normal karyotype and a cell line with 12p duplication/triplication in 25 percent of metaphase cells. Utilization of fluorescence in situ hybridization (FISH) identified three copies of probes from the end of the short arm of chromosome 12 (TEL(12p13) locus and the subtelomere (12p terminal)) on the structurally abnormal chromosome 12. Genome-wide SNP array analysis revealed that the regions of duplication and triplication were of maternal origin. The abnormal cell line in our patient was present at 25 percent at six months and 19 months of age in both metaphase and interphase cells from peripheral blood, where typically the isochromosome 12p is absent in the newborn. This may suggest that the gene(s) resulting in a growth disadvantage of abnormal cells in peripheral blood of patients with tetrasomy 12p may not have the same influence when present in only three copies.
机译：我们提出了一个罕见的病例的Pallister-Killian综合征的表型特征的12号染色体的结构异常的马赛克。六个月大的儿童具有畸形特征，外斜视，肌张力减退和发育延迟，在正常核型和在25％的中期细胞中具有12p复制/重复的细胞系中均镶嵌。利用荧光原位杂交（FISH）从结构异常12号染色体上的第12号染色体短臂末端（TEL（12p13）基因座和亚端粒（12p末端））鉴定出三份探针。分析表明，重复和三重区域是产妇来源。我们患者的异常细胞系在6个月和19个月大时，外周血的中期和中期细胞中均占25％，新生儿中通常不存在同染色体12p。这可能表明导致四联体12p患者外周血中异常细胞生长不利的基因可能仅以三份拷贝出现时就不会产生相同的影响。

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