التفاصيل البيبلوغرافية
| العنوان: |
Hidden Y Chromosome Material and Congenital Cardiovascular Malformations in a Cohort of Turner Syndrome Patients with 45,X Blood Karyotype. |
| المؤلفون: |
Udo, Emediong Q., Truly, Tate, Peters, Andrew, Prakash, Siddharth K., Rivera, Michelle, Rodriguez-Buritica, David Felipe |
| المصدر: |
Cytogenetic & Genome Research; 2024, Vol. 163 Issue 5/6, p290-294, 5p |
| مصطلحات موضوعية: |
TURNER'S syndrome, Y chromosome, KARYOTYPES, HUMAN abnormalities, CONGENITAL heart disease, X chromosome, MITRAL valve |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
|
Copyright of Cytogenetic & Genome Research is the property of Karger AG and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
