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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Double aneuploidy 48,+21 of a Bulgarian newborn with Down phenotype: a case report
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Double aneuploidy 48,+21 of a Bulgarian newborn with Down phenotype: a case report

机译：双行非倍性48，+ 21保加利亚新生儿患有表型：案例报告

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Background:Aneuploidy is one of the most important chromosomal aberrations, which involves an abnormal number of the chromosomes. Trisomy 21 (Down syndrome) and numerical aberrations of the sex chromosomes have a relatively high prevalence in the general population. However, the patients usually have one of the above genetic disorders and combined cases of two different trisomies are unusual.Case presentationWe report a case of a patient with double aneuploidy—a combination of trisomy 21 and triple X syndrome. The proband had typical features of Down syndrome and did not manifest any symptoms of polysomy X. The patient had hypotonia, a cardiac defect, and an annular pancreas. A clinical diagnosis of Down syndrome was established, but the cytogenetic analysis found two free full trisomies—trisomy 21 (Down syndrome) and triple X.ConclusionCases of double aneuploidy, combining trisomy 21 and trisomy of a sex chromosome, could be challenging because the patients manifest only symptoms, typical for Down syndrome. The discovery of a second complete free trisomy X in our case was an incidental finding. This illustrates the importance of the cytogenetic analysis, despite the evident phenotype of trisomy 21.
机译：背景：非倍性是最重要的染色体像差之一，涉及染色体的异常。 Trisomy 21（唐氏综合征）和性染色体的数值像差在一般人群中具有相对较高的普及率。然而，患者通常具有上述遗传疾病之一，并且两种不同三元的组合案例是不寻常的。Case呈现我们报告了具有双排卵体的患者的患者 - 三元组21和三重X综合征的组合。该证书具有下降综合征的典型特征，并且没有表现出多元素X的任何症状。患者具有低呼吸，心脏缺损和环形胰腺。建立了抑制综合征的临床诊断，但细胞遗传学分析发现了两种自由的完整三元 - 三胞（下综合征）和三重X.conclusioncase的双排水倍性，组合三胞肌瘤21和性染色体的三术，可能是挑战，因为患者可能是挑战性的只表现出症状，典型为唐氏综合症。在我们的案件中发现第二个完整的三元X次数是偶然的发现。这表明了尽管三胞体21的表现明显的表型，但表明了细胞遗传学分析的重要性。

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