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22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency


Ovarian reserve represents the number of available follicles/oocytes within ovaries and it can be assessed by follicle stimulating hormone levels, anti-Müllerian hormone levels, and/or antral follicle count determined by ultrasounds. A low ovarian reserve is defined by an abnormal ovarian reserve test. This condition can be considered premature if it occurs before the age of 40, leading to premature ovarian insufficiency. Despite the growing knowledge concerning the genetic basis of ovarian deficiency, the majority of cases remain without a genetic diagnosis. Although 22q11.2 deletions and duplications have been associated with genitourinary malformations, ovarian deficiency is not a commonly reported feature. We report here four patients bearing a 22q11.2 rearrangement, identified during the clinical assessment of their low ovarian reserve or premature ovarian insufficiency, and discuss the molecular basis of the ovarian defects.

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We thank all the patients and families for taking part in our study.

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Correspondence to Sylvie Jaillard.

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Jaillard, S., Tucker, E.J., Akloul, L. et al. 22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency. J Hum Genet 63, 691–698 (2018).

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