The diagnosis of supernumerary X & Y chromosome variations has increased following the implementation of genetic testing in pediatric practice. Empirical evidence suggests that the delivery of the diagnosis has a lasting impact on how affected individuals and their parents perceive and adapt to the diagnosis. The purpose of this review is to synthesize the literature to obtain useful recommendations for delivering a pediatric diagnosis of a sex chromosome multisomy (SCM) based upon a growing body of quantitative and qualitative literature on patient experiences. We conducted an integrative literature review using PubMed, Web of Science and CINAHL employing keywords “genetic diagnosis delivery,” “genetic diagnosis disclosure,” “sex chromosome aneuploidy,” “Klinefelter syndrome” or “”47, XXY,” “Jacob syndrome” or “47, XYY,” “Trisomy X,” “Triple X” or “47, XXX,” and “48 XXYY from January 1, 2000, to October 31, 2023. Literature supports that patients and parents value the provision of up-to-date information and connection with supportive resources. Discussion of next steps of care, including relevant referrals, prevents perceptions of provider abandonment and commitment to ongoing support. Proactively addressing special concerns such as disclosing the diagnosis to their child, family, and community is also beneficial. Tables are provided for useful information resources, medical specialties that may be required to support patients, and common misconceptions that interfere with accurate information about the diagnosis. Patient experiences suggest there should be heightened attention to diagnosis delivery, in reference to the broader ethical and social impacts of a SCM diagnosis. We present recommendations for optimal disclosure of a SCM diagnosis in early and late childhood, adolescence, and young adulthood.

中文翻译：

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针对儿童、青少年和年轻人 X 和 Y 染色体多体性诊断的循证建议：综合评价

随着基因检测在儿科实践中的实施，额外 X 和 Y 染色体变异的诊断有所增加。经验证据表明，诊断结果对受影响的个人及其父母如何看待和适应诊断具有持久影响。本综述的目的是综合文献，根据越来越多的关于患者经历的定量和定性文献，获得有用的建议，以对性染色体多体性 (SCM) 进行儿科诊断。我们使用 PubMed、Web of Science 和 CINAHL 进行了综合文献综述，使用关键词“基因诊断交付”、“基因诊断公开”、“性染色体非整倍体”、“克兰费尔特综合征”或“47，XXY”、“雅各布综合征”或“47，XYY”，“X 三体”，“X 三体”或“47，XXX”和“48 XXYY”，从 2000 年 1 月 1 日到 2023 年 10 月 31 日。文献支持患者和家长重视提供最多-最新信息以及与支持资源的联系。讨论后续护理步骤，包括相关转介，可以防止提供者放弃和承诺持续支持的看法。积极解决特殊问题，例如向孩子、家人和社区披露诊断结果也是有益的。提供的表格包含有用的信息资源、支持患者可能需要的医学专业以及干扰诊断准确信息的常见误解。患者经验表明，考虑到 SCM 诊断的更广泛的伦理和社会影响，应高度重视诊断交付。我们提出了在儿童早期和晚期、青春期和成年早期最佳披露 SCM 诊断的建议。