Trisomy 15 and monosomy X in a product of conception: a case report

Aneuploidies are commonly implicated in spontaneous abortions. Trisomy with concurrent monosomy of chromosome X is a rare finding that may mimic hydatidiform mole.

We describe a case of trisomy 15 and monosomy X in a product of conception. Ultrasound revealed a gestation with absent cardiac activity; pregnancy was terminated by dilation and curettage at 11 weeks, 6 days. Histopathologic examination and cytogenetic analysis were performed on the products of conception to identify the cause of pregnancy loss.

Chromosome microarray revealed a chromosome complement with trisomy 15 and monosomy X, [arr(X)×1, (15)×3], consistent with a karyotype of 46,X +15.

Histopathologic examination of products of conception with aneuploidies may be inconclusive, and chromosomal microarray is a versatile tool in these scenarios to rule out clinically significant entities such as hydatidiform mole. An imbalance of imprinted gene dosage from chromosome 15 may contribute to the histopathologic findings in this case.