| Autor: |
Jones CA; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto ., Kolomietz E, Maire G, Vlasschaert M, Joseph-George AM, Myles-Reid D, Chong K, Chitayat D, Arthur R |
| Jazyk: |
angličtina |
| Zdroj: |
Systems biology in reproductive medicine [Syst Biol Reprod Med] 2014 Dec; Vol. 60 (6), pp. 377-82. Date of Electronic Publication: 2014 Sep 23. |
| DOI: |
10.3109/19396368.2014.962710 |
| Abstrakt: |
Intrachromosomal insertions are rare and difficult to diagnose. However, making the correct diagnosis is critical for genetic risk assessment, and prenatal and preimplantation genetic diagnosis outcomes. We present a case of preimplantation genetic diagnosis (PGD) using array comparative genomic hybridization (aCGH) following trophectoderm biopsy of embryos created after in vitro fertilization for a carrier of an intrachromosomal insertion on chromosome 1 [46,XX, ins(1)(q44q23q32.1)]. The PGD analysis of 6 blastocysts demonstrated 67% unbalanced embryos. No pregnancy was achieved after the transfer of 2 euploid embryos. To the best of our knowledge, this is the first reported case of PGD using aCGH following trophectoderm biopsy for a carrier of an intrachromosomal insertion. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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