Is the resulting phenotype of an embryo with balanced X autosome translocation obtained by means of preimplantation genetic diagnosis linked to the X inactivation pattern?

In female balanced X-autosome translocation, normal/balanced female embryos obtained after a preimplantation genetic diagnosis procedure and transferred have a potential risk of clinical abnormalities owing to the uncertain outcome of X inactivation.

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Fatma Ferfouri, Ph.D., Izabel Bernicot, Ph.D., Anouck Schneider, Pharm.D., Emmanuelle Haquet, Ph.D., Bernard Hédon, M.D., Tal Anahory, M.D., Ph.D.

Volume 105, Issue 4, Pages 1035-1046



To examine if a balanced female embryo with X-autosome translocation could, during its subsequent development, express an abnormal phenotype.


Preimplantation genetic diagnosis (PGD) analysis on two female carriers with maternal inherited X-autosome translocations.


Infertility center and genetic laboratory in a public hospital.


Two female patients carriers undergoing PGD for a balanced X-autosome translocations: patient 1 with 46,X,t(X;2)(q27;p15) and patient 2 with 46,X,t(X;22)(q28;q12.3).


PGD for balanced X-autosome translocations.

Main Outcome Measure(s):

PGD outcomes, fluorescence in situ hybridization in biopsied embryos and meiotic segregation patterns analysis of embryos providing from X-autosome translocation carriers.


Controlled ovarian stimulation facilitated retrieval of a correct number of oocytes. One balanced embryo per patient was transferred and one developed, but the patient miscarried after 6 weeks of amenorrhea. In X-autosome translocation carriers, balanced Y-bearing embryos are most often phenotypically normal and viable. An ambiguous phenotype exists in balanced X-bearing embryos owing to the X inactivation mechanism. In 46,XX embryos issued from an alternate segregation, der(X) may be inactivated and partially spread transcriptional silencing into a translocated autosomal segment. Thus, the structural unbalanced genotype could be turned into a viable functional balanced one. It is relevant that a discontinuous silencing is observed with a partial and unpredictable inactivation of autosomal regions. Consequently, the resulting phenotype remains a mystery and is considered to be at risk of being an abnormal phenotype in the field of PGD.


It is necessary to be cautious regarding to PGD management for this type of translocation, particularly in transferred female embryos.

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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders.