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首页> 外文期刊>Case Reports in Genetics >Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6
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Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

机译：遗传性不平衡易位在染色体6中的临床表达。

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Unbalanced chromosomal rearrangements are not common; however, they have a significant clinical expression. The parental balanced translocation produces unbalanced chromosome, which is transmitted to next generation through fertilization of gametes carrying the derivative chromosome. The carriers of balanced rearrangements mostly do not have recognizable phenotypic expression. We report a family comprising of healthy and non-consanguineous young parents and their preemie newborn severely affected with congenital anomalies and systemic disorders. Conventional Gbanding analysis of somatic chromosomes identified a balanced translocation, t(6;10)(p23;q24), in mother and an unbalanced rearrangement, der(6)t(6:10)(p23;q24)mat, in the child. The child has inherited a derivative chromosome 6 with partial deletion of 6(p23-pter) and partial trisomy 10(q24-qter), which has resulted in fusion of genes of two different chromosomes. The prominent phenotypic features of del(6p), including high forehead, flat nasal bridge, agenesis of left ear, atrial septal defect (ASD), craniosynostosis, and growth retardation, are overlapping with specific Axenfeld-Reiger-, Larsen-, and Ritscher-Sinzel/3-C syndromes, however, lacking in ocular anomalies, skeletal laxity, or cerebellar malformation. Therefore, this paper rules out the isolated effect of del(6p23) or trisomy 10(q24) on distinct previously reported syndromes and proposes the combined effect of unbalanced chromosomal alteration.
机译：不平衡的染色体重排并不常见。但是，它们具有重要的临床表达。父母平衡易位产生不平衡的染色体，该染色体通过携带衍生染色体的配子受精而传给下一代。平衡重排的携带者大多没有可识别的表型表达。我们报告了一个由健康的和非血缘的年轻父母及其早产新生儿严重受到先天性异常和系统性疾病影响的家庭。体染色体的常规Gbanding分析确定了母亲中的平衡易位t（6; 10）（p23; q24）和孩子中的不平衡重排der（6）t（6:10）（p23; q24）mat 。这个孩子已经遗传了一条衍生染色体6，其中部分缺失了6（p23-pter），部分缺失了三体性10（q24-qter），这导致了两个不同染色体的基因融合。 del（6p）的突出表型特征包括高额额头，平坦的鼻梁，左耳发育不全，房间隔缺损（ASD），颅突狭窄和生长迟缓，与特定的Axenfeld-Reiger-，Larsen-和Ritscher重叠-Sinzel / 3-C综合征，但是，没有眼部异常，骨骼松弛或小脑畸形。因此，本文排除了del（6p23）或三体性10（q24）对不同的先前报道的综合征的孤立作用，并提出了不平衡染色体改变的综合作用。

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