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首页> 外文期刊>Molecular cytogenetics >Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies
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Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

机译：单体染色体21在具有小尺寸和轻微异常的情况下补偿21 Q22.11q22.3重复

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Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoints, presenting with a broad spectrum of phenotypes. We report a 10-month-old boy with short stature, minor anomalies and mild motor delay. The patient had a monosomy 21 and duplication of the 21q22.11q22.3 region on the remaining derivative chromosome 21 which represents a partial 21q uniparental disomy of paternal origin, upd(21q22.11q22.3)pat. The abnormalities were characterized by karyotyping, FISH, chromosomal microarray, and genotyping. This is the first case showing a monosomy 21 compensated by upd(21q22.11q22.3) as a mechanism of genomic rescue. Because there is no strong evidence showing imprinting on chromosome 21, the uniparental disomy itself is not associated with abnormal phenotype but has reduced phenotype severity of monosomy 21. We reviewed the previously published cases with isolated 21q deletions and identified a common deletion of 5.7?Mb associated with low birth weight, length and head circumference in the 21q21.2 region.
机译：部分单粒子21是具有可变尺寸和缺失断点的罕见发现，呈现出广谱的表型。我们举报了一个十个月大的男孩，身材矮小，轻微的异常和轻度电机延迟。患者在剩余的衍生染色体21上具有单颗粒21和21Q22.11Q22.3区域的重复，该区域代表了父母起源的部分21Q天拔，UPD（21Q22.1122.3）PAT。异常的特征是核型化，鱼，染色体微阵列和基因分型。这是第一种显示通过UPD（21Q22.11Q22.3）作为基因组救援机制补偿的单体21的案例。因为没有强有力的证据表明在染色体21上显示印迹，所以发单眼症本身与异常表型无关，但对单体表达的表型严重程度降低了。我们审查了孤立的21Q缺失的先前公布的病例，并确定了5.7的常见缺失在21Q21.2区域中与低出生体重，长度和头围有关。

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