کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5695002 | 1410207 | 2017 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Translocations, inversions and other chromosome rearrangements
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
زنان، زایمان و بهداشت زنان
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Translocations, inversions and other chromosome rearrangements Translocations, inversions and other chromosome rearrangements](/preview/png/5695002.png)
چکیده انگلیسی
Chromosomal rearrangements have long been known to significantly impact fertility and miscarriage risk. Advancements in molecular diagnostics are challenging contemporary clinicians and patients in accurately characterizing the reproductive risk of a given abnormality. Initial attempts at preimplantation genetic diagnosis were limited by the inability to simultaneously evaluate aneuploidy and missed up to 70% of aneuploidy in chromosomes unrelated to the rearrangement. Contemporary platforms are more accurate and less susceptible to technical errors. These techniques also offer the ability to improve outcomes through diagnosis of uniparental disomy and may soon be able to consistently distinguish between normal and balanced translocation karyotypes. Although an accurate projection of the anticipated number of unbalanced embryos is not possible at present, confirmation of normal/balanced status results in high pregnancy rates (PRs) and diagnostic accuracy.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Fertility and Sterility - Volume 107, Issue 1, January 2017, Pages 19-26
Journal: Fertility and Sterility - Volume 107, Issue 1, January 2017, Pages 19-26
نویسندگان
Scott J. M.D., Jennifer M.S., L.C.G.C., Amanda M.S., L.C.G.C., Rebekah S. Ph.D., F.A.C.M.G.,