TY - JOUR
T1 - Trisomy 15 and monosomy X in a product of conception
T2 - A case report
AU - Fernandez De La Vega, Joshua
AU - Pourmehdi Lahiji, Arian
AU - Han, Song
AU - Huang, Gengming
AU - Dong, Jianli
AU - Thaker, Harshwardhan M.
N1 - Publisher Copyright:
© 2025 The Author(s). Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved.
PY - 2025/11/1
Y1 - 2025/11/1
N2 - Introduction: Aneuploidies are commonly implicated in spontaneous abortions. Trisomy with concurrent monosomy of chromosome X is a rare finding that may mimic hydatidiform mole. Methods: 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. Results: 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. Discussion: 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.
AB - Introduction: Aneuploidies are commonly implicated in spontaneous abortions. Trisomy with concurrent monosomy of chromosome X is a rare finding that may mimic hydatidiform mole. Methods: 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. Results: 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. Discussion: 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.
KW - aneuploidy
KW - chromosomal microarray
KW - concurrent monosomy of chromosome X
KW - trisomy
UR - https://www.scopus.com/pages/publications/105022727269
UR - https://www.scopus.com/pages/publications/105022727269#tab=citedBy
U2 - 10.1093/labmed/lmaf050
DO - 10.1093/labmed/lmaf050
M3 - Article
C2 - 40758062
AN - SCOPUS:105022727269
SN - 0007-5027
VL - 56
SP - 819
EP - 823
JO - Laboratory medicine
JF - Laboratory medicine
IS - 6
ER -