Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

Usha R.Dutta; Vijaya KumarPidugu; AshwinDalal

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Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

机译：一个非身材矮小的闭经女孩中确定的非罗伯逊双着丝粒14; 19的分子细胞遗传学表征。

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We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescencein situhybridization (FISH) using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed the dicentric nature of the derivative chromosome and indicated that the rearrangement involved the short arms of both of these chromosomes. Furthermore, we also determined that the chromosome 19p13.3 breakpoint occurred within the terminal 1 Mb region. This is the first report of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19 with the karyotype determined as 45,XX,dic(14;19)(p11.2;p13.3)[35]/46,XX[15], and we suggest that the chromosome rearrangement could be the cause of clinical phenotype.

机译：我们报告了一个身高矮小和闭经的16岁女孩。最初，细胞遗传学分析显示存在涉及染色体14和19的镶嵌非罗伯逊双心染色体。随后，使用全染色体涂料，着丝粒探针以及基因特异性探针，通过荧光原位杂交（FISH）进行了分子细胞遗传学分析，从而证实了衍生染色体，并表明重排涉及这两个染色体的短臂。此外，我们还确定染色体19p13.3断裂点出现在末端1 Mb区域内。这是第一篇有关镶嵌非罗伯逊双心染色体的报告，涉及染色体14和19，其核型确定为45，XX，dic（14; 19）（p11.2; p13.3）[35] / 46，XX [ 15]，我们建议染色体重排可能是临床表型的原因。

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《Case Reports in Genetics》 |2012年第1期|共5页
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Usha R.Dutta; Vijaya KumarPidugu; AshwinDalal;
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中图分类临床医学;
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6. Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea [O] . Usha R. Dutta, Vijaya Kumar Pidugu, Ashwin Dalal 2012

机译：一个非身高和闭经的女孩中确定的非罗伯逊双着丝粒14； 19的分子细胞遗传学表征。
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机译：分子细胞遗传学：一种测量低浓度电离辐射后个体染色体易位的新方法

Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

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