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 five were biopsied and vitrified. 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 expression 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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