ISSN 1518 0557
Next Generation Sequencing (NGS) in chromosome translocation 46, XX, t (9; X) (q22; q28) - a case report

2018; 22
Monise Santos, Ivan Henrique Yoshida, Michelli Suemi Tanada, Caroline Zulim, Emerson Barchi Cordts, Caio Parente Barbosa
JBRA Assist. Reprod. 2018; 22 (3):261-262

Received September 18, 2017
Accepted April 15, 2018
Abstract

This paper reports the case of a patient who sought assisted reproductive technology (ART) treatment and was referred to pre-implantation genetic diagnosis (PGD) on account of a chromosomal translocation presented with secondary infertility. The patient underwent a highly complex ART treatment and had 14 metaphase II oocytes collected on the day of follicular aspiration. The embryos were taken to extended culture and ve were biopsied and vitri ed. The embryo genetic report showed aneuploidy in four of the blastocysts, while the other resulted in 46, XX. In conclusion, chromosome translocations involving the X chromosome might result in the deregulation of gene ex- pression and defective ovarian formation. Therefore, the genes present in the X chromosome are believed to be essential in normal ovarian function.


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doi: 10.5935/1518-0557.20180034

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