We present 2 cases of double mosaic aneuploidy harboring 2 or more different aneuploid cell lines, but no line with a normal chromosome constitution. One of these cases presented mosaicism of sex chromosome aneuploid cell lines (47,XXX/45,X) along with another line containing an autosomal trisomy (47,XX,+8), while the other case showed mosaicism of 2 different autosomal trisomy cell lines (47,XY,+5 and 47,XY,+8). To elucidate the mechanisms underlying these mosaicisms, we conducted molecular cytogenetic analyses. Genotyping data from the SNP microarray indicated that 2 sequential meiotic or early postzygotic segregation errors likely had occurred followed by natural selection. These cases suggest that frequent segregation errors and selection events in the meiotic and early postzygotic stages lead to this condition.

Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, et al: Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet 19:1263-1275 (2010).
DeBrasi D, Genardi M, D'Agostino A, Calvieri F, Tozzi C, et al: Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8. Hum Genet 95:519-525 (1995).
Fiorentino F, Biricik A, Bono S, Spizzichino L, Cotroneo E, et al: Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos. Fertil Steril 101:1375-1382 (2014).
Fragouli E, Alfarawati S, Spath K, Jaroudi S, Sarasa J, et al: The origin and impact of embryonic aneuploidy. Hum Genet 132:1001-1013 (2013).
Harada N, Abe K, Nishimura T, Sasaki K, Ishikawa M, et al: Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus. Am J Med Genet 75:432-437 (1998).
Huijsdens-van Amsterdam K, Barge-Schaapveld DQ, Mathijssen IB, Alders M, Pajkrt E, Knegt AC: Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism. Mol Cytogenet 5:8 (2012).
Jurcă MC, Bembea M, Iuhas OA, Kozma K, Petcheşi CD, et al: Double autosomal trisomy with mosaicism 47,XY(+8)/47,XY(+21). Morphological and genetic changes of a rare case. Rom J Morphol Embryol 59:985-988 (2018).
Karadima G, Bugge M, Nicolaidis P, Vassilopoulos D, Avramopoulos D, et al: Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur J Hum Genet 6:432-438 (1998).
Kumar M, Lal V, Chapadgaonkar S, Bhattacharya SK: A rare case of mosaic 45,X/47,XX,+13 in 28-year-old women with secondary amenorrhoea: a case report and literature review. Meta Gene 3:8-13 (2014).
Kyogoku H, Kitajima TS: Large cytoplasm is linked to the error-prone nature of oocytes. Dev Cell 41:287-298 (2017).
Nagaoka SI, Hassold TJ, Hunt PA: Human aneuploidy: mechanisms and new insights into an age-old problem. Nat Rev Genet 13:493-504 (2012).
Potapova T, Gorbsky G: The consequences of chromosome segregation errors in mitosis and meiosis. Biology (Basel) 6:12 (2017).
Ryu SW, Lee G, Baik CS, Shim SH, Kim JT, et al: Down-Turner syndrome (45,X/47,XY,+21): case report and review (in Korean). Korean J Lab Med 30:195-200 (2010).
Schofield B, Babu A, Punales-Morejon D, Popescu S, Leiter E, et al: Double mosaic aneuploidy: 45,X/47,XY,+8 in a male infant. Am J Med Genet 44:7-10 (1992).
Schubert R, Eggermann T, Hofstaetter C, von Netzer B, Knöpfle G, Schwanitz G: Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: clinical report and review of the literature. Am J Med Genet A 110:278-282 (2002).
Vanneste E, Voet T, Le Caignec C, Ampe M, Konings P, et al: Chromosome instability is common in human cleavage-stage embryos. Nat Med 15:577-583 (2009).
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.