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首页> 外文期刊>Case Reports in Genetics >Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome
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Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome

机译：染色体4qter的获得和5pter的丧失：一个具有Cri du Chat综合征特征的异常病例

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Here, we present a case with an unusual chromosomal rearrangement in a child with a predominant phenotype of high-pitched crying showing deletion encompassingCTNND2due to an unbalanced translocation of chromosomes 4 and 5. This rearrangement led to a duplication of ~35 Mb in 4qter which replaced 18 Mb genetic materials in 5pter. Even though, in this patient, there was no clinically obvious modification to the classical phenotypes of CdCS, and the influence of the 4q-duplication cannot be completely excluded in this case. However, the region 4q34.1–34.3 was previously reported as a region not leading to phenotypic changes if present in three copies, an observation which could possibly be supported by this case.Conclusion. This study showed that in a patient with an unbalanced translocation resulting in 5p deletion, the presence of partial trisomy of chromosome 4q could be clinically insignificant.
机译：在这里，我们介绍了一个儿童的异常染色体重排的情况，该儿童的主要症状是高音调的哭声，由于染色体4和5的不平衡移位，导致缺失了CTNND2。这种重排导致4qter中〜35 Mb的重复，从而取代了5pter中18 Mb的遗传物质。即使在该患者中，对CdCS的经典表型也没有临床上明显的改变，并且在这种情况下不能完全排除4q复制的影响。但是，以前报道的4q34.1–34.3区域是一个区域，如果以三个副本出现，则不会导致表型变化，这一观察结果可能会受到这种情况的支持。结论。这项研究表明，在具有不平衡易位导致5p缺失的患者中，染色体4q的部分三体性的存在在临床上可能无关紧要。

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