Emediong Q Udo, Tate Truly, Andrew Peters, Siddharth K Prakash, Michelle Rivera, David Felipe Rodriguez-Buritica
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引用次数: 0
摘要
主动脉瓣二尖瓣（BAV）是成人中最常见的先天性心脏畸形（CCM），在特纳综合征（TS）中的发病率是正常人的 30-50 倍。我们假设，X 和 Y 染色体的剂量对 TS 中 CCM 的发病率都有影响。识别基因型与表型之间的相关性可改善对 45,X 染色体核型但有隐性 Y 染色体嵌合的患者的风险分层。利用UTHealth特纳综合征研究登记处的数据和样本，我们将通过多重定量PCR和SNP芯片鉴定的Y染色体DNA与先天性心脏病变的存在相关联。我们在超过 10% 的登记参与者中鉴定出了 Y 染色体 DNA，其中包括 2 名通过核型或 SNP 芯片检测不到 Y DNA 的参与者。Y DNA 的存在与先天性心脏病之间没有明显的相关性。(IRB 试验注册编号为 HSC-MS-15-0120）。
Hidden Y Chromosome Material and Congenital Cardiovascular Malformations in a Cohort of Turner Syndrome Patients with 45,X Blood Karyotype.
Introduction: Bicuspid aortic valve is the most common congenital cardiac malformation (CCM) in adults and is 30-50 times more frequent in Turner syndrome (TS). We hypothesize that both X and Y chromosome dosages contribute to the prevalence of CCM in TS. The recognition of genotype-phenotype correlations may improve risk stratification of patients with 45,X karyotypes who have cryptic Y chromosome mosaicism.
Methods: Utilizing data and samples from the UTHealth Turner Syndrome Research Registry, we correlated Y chromosome DNA identified by multiplex quantitative PCR and SNP microarrays with the presence of congenital heart lesions.
Results: We identified Y chromosome DNA in more than 10% of registry participants, including 2 participants who had no detectable Y DNA by karyotype or SNP microarray.
Conclusions: There were no significant correlations between the presence of Y DNA and CCM.
期刊介绍：
During the last decades, ''Cytogenetic and Genome Research'' has been the leading forum for original reports and reviews in human and animal cytogenetics, including molecular, clinical and comparative cytogenetics. In recent years, most of its papers have centered on genome research, including gene cloning and sequencing, gene mapping, gene regulation and expression, cancer genetics, comparative genetics, gene linkage and related areas. The journal also publishes key papers on chromosome aberrations in somatic, meiotic and malignant cells. Its scope has expanded to include studies on invertebrate and plant cytogenetics and genomics. Also featured are the vast majority of the reports of the International Workshops on Human Chromosome Mapping, the reports of international human and animal chromosome nomenclature committees, and proceedings of the American and European cytogenetic conferences and other events. In addition to regular issues, the journal has been publishing since 2002 a series of topical issues on a broad variety of themes from cytogenetic and genome research.
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