التفاصيل البيبلوغرافية
| العنوان: |
Two-Generation Transmission of Trisomy 18p: Prenatal Diagnosis in a Woman with Mild Intellectual Disability. |
| المؤلفون: |
Yu, Yang, Jiang, Yuting, Hu, Xiaonan, Zhang, Hongguo, Liu, Ruizhi, Wang, Ruixue |
| المصدر: |
Cytogenetic & Genome Research; May2019, Vol. 157 Issue 3, p220-226, 7p, 2 Color Photographs, 1 Diagram, 2 Charts |
| مصطلحات موضوعية: |
CHROMOSOMAL translocation, TRISOMY, INTELLECTUAL disabilities, PRENATAL diagnosis, DISABILITIES, CHROMOSOME abnormalities, CENTROMERE |
| مستخلص: |
Trisomy 18p is a rarely observed chromosomal aberration. Only 31 cases have previously been described in the literature. Trisomy 18p is associated with mild to moderate phenotypic anomalies and intellectual disability. Here, we report on a pregnant woman in whom noninvasive prenatal testing indicated a high risk of fetal trisomy 18. Prenatal diagnosis and karyotyping of the parents were performed and demonstrated that both the mother and the fetus had a derivative chromosome 15 with a segment of unknown origin. Chromosomal microarray analysis and FISH revealed a 14.9-Mb duplication of 18p and detected 3 centromeres of chromosome 18. To our knowledge, this is the first study reporting trisomy 18p due to an unbalanced translocation of 18p onto chromosome 15q showing 2-generation transmission. The results suggest that trisomy 18p can be considered a euchromatic variant. [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 |
