Acta Med. 2023, 66: 32-36

https://doi.org/10.14712/18059694.2023.13

First Croatian Case of Double Aneuploidy: A Child With Klinefelter and Edwards Syndrome (48,XXY,+18) – Possible Causes and Contributing Factors

Ena Batinovića, Anet Papazovska Cherepnalkovskia,b, Bernarda Lozićc,d, Luka Brajkovića, Ivana Zanchia, Vesna Pavlova, Marija Bucata

aDepartment of Neonatology, University Hospital Centre Split, Split, Croatia
bUniversity of Split, University Department of Health Studies, Split, Croatia
cDepartment of Pediatrics, University Hospital Centre Split, Split, Croatia
dUniversity of Split, School of Medicine, Split, Croatia

Received February 2, 2023
Accepted April 26, 2023

References

1. Reddy KS. Double trisomy in spontaneous abortions. Hum Genet 1997; 101: 339–45. <https://doi.org/10.1007/s004390050638>
2. Ford CE, Jones KW, Miller OJ, et al. The chromosomes in a patient showing both mongolism and the Klinefelter syndrome. Lancet 1959; 1: 709–10. <https://doi.org/10.1016/S0140-6736(59)91891-4>
3. Subramaniyam S, Pulijaal VR, Mathew S. Double and multiple chromosomal aneuploidies in spontaneous abortions: A single institutional experience. J Hum Reprod Sci 2014; 7(4): 262–8. <https://doi.org/10.4103/0974-1208.147494> <PubMed>
4. Chen CP, Chern SR, Chen CY, et al. Double aneuploidy with Edwards-Klinefelter syndromes (48,XXY,+18) of maternal origin: prenatal diagnosis and molecular cytogenetic characterization in a fetus with arthrogryposis of the left wrist and aplasia of the left thumb. Taiwan J Obstet Gynecol 2011; 50(4): 479–84. <https://doi.org/10.1016/j.tjog.2011.10.014>
5. Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, et al. Double trisomy in spontaneous miscarriages: Cytogenetic and molecular approach. Hum Reprod 2006; 21: 958–66. <https://doi.org/10.1093/humrep/dei406>
6. Micale M, Insko J, Ebrahim SA, Adeyinka A, Runke C, Van Dyke DL. Double trisomy revisited – a multicenter experience. Prenat Diagn 2010; 30: 173–6. <https://doi.org/10.1002/pd.2429>
7. Kovaleva NV, Mutton DE. Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes. Am J Med Genet A 2005; 134A(1): 24–32. <https://doi.org/10.1002/ajmg.a.30306>
8. Biri A, Karaoğuz MY, Ince GD, Ergün MA, Menevşe S, Bingöl B. Double aneuploidy involving trisomy 7 with Potter sequence. Eur J Med Genet 2005; 48(1): 67–73. <https://doi.org/10.1016/j.ejmg.2005.01.006>
9. Begam M, Bekdache GN, Murthy SK, Mirghani HM. Double aneuploidy of trisomy 18 and Klinefelter syndrome: Prenatal diagnosis and perinatal outcome. J Perinat Med 2010; 38: 565–6. <https://doi.org/10.1515/jpm.2010.075>
10. Subramaniyam S, Pulijaal VR, Mathew S. Double and multiple chromosomal aneuploidies in spontaneous abortions: A single institutional experience. J Hum Reprod Sci 2014; 7(4): 262–8. <https://doi.org/10.4103/0974-1208.147494> <PubMed>
11. Golbasi H, Omeroglu I, Bayraktar B, Golbasi C, Adıyaman D, Ekin A. How COVID-19 pandemic is changing the practice of prenatal screening and diagnosis? J Perinat Med 2021; 50(2): 124–31. <https://doi.org/10.1515/jpm-2021-0343>
12. Balasundaram P, Avulakunta ID. Edward Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan. (Accessed April 17, 2023 at: https://www.ncbi.nlm.nih.gov/books/NBK570597/).
13. Gottlieb S, Rey RA, Malozowski S. Klinefelter syndrome and cryptorchidism. JAMA 2009; 301(14): 1436–7. <https://doi.org/10.1001/jama.2009.443>
14. De Vigan C, Baena N, Cariati E, Clementi M, Stoll C; EUROSCAN Working Group. Contribution of ultrasonographic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe. Ann Genet 2001; 44(4): 209–17. <https://doi.org/10.1016/S0003-3995(01)01091-7>
15. Maayan I. Meiosis in Humans. Embryo Project Encyclopedia (2011-03-24). (Accessed April 17, 2023 at: http://embryo.asu.edu/handle/10776/2084).
16. He M, Zhang T, Yang Y, Wang C. Mechanisms of Oocyte Maturation and Related Epigenetic Regulation. Front Cell Dev Biol 2021; 9: 654028. <https://doi.org/10.3389/fcell.2021.654028> <PubMed>
17. Chebel Z, Krayem S, Nassif Y, Hamod DA. When Edwards meets Klinefelter: a new case of double Aneuploidy. J Pediatr Neonatal Care 2019; 9(2): 65–6.
18. Weeraesekara KP, Anjana Sirisena. Coexisting Edward syndrome and Klinefelter syndrome. Sri Lanka J Child Helth 2013; 42(3): 170–2. <https://doi.org/10.4038/sljch.v42i3.6025>
19. Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, et al. Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach. Hum Reprod 2006; 21(4): 958–66. <https://doi.org/10.1093/humrep/dei406>
20. Hulten MA. The origin of aneuploidy: Bivalent instability and the maternal age effect in trisomy 21 Down syndrome. Am J Med Genet Suppl 1990; (suppl 7): 160–1.
21. Gaulden ME. Maternal age effect: the enigma of Down syndrome and other trisomic conditions. Mutat Res 1992; 296(1–2): 69–88. <https://doi.org/10.1016/0165-1110(92)90033-6>
22. Petersen MB, Mikkelsen M. Nondisjunction in trisomy 21: origin and mechanisms. Cytogenet Cell Genet 2000; 91(1–4): 199–203. <https://doi.org/10.1159/000056844>
23. Kotlar B, Gerson E, Petrillo S, Langer A, Tiemeier H. The impact of the COVID-19 pandemic on maternal and perinatal health: a scoping review. Reprod Health 2021; 18(1): 10. <https://doi.org/10.1186/s12978-021-01070-6> <PubMed>
24. Madjunkov M., Dviri M, Librach, C. A comprehensive review of the impact of COVID-19 on human reproductive biology, assisted reproduction care and pregnancy: a Canadian perspective. J Ovarian Res 2020; 13: 140. <https://doi.org/10.1186/s13048-020-00737-1> <PubMed>
25. Sun XF, Wang WH, Keefe DL. Overheating is detrimental to meiotic spindles within in vitro matured human oocytes. Zygote 2004; 12(1): 65–70. <https://doi.org/10.1017/S0967199404002631>
26. Herrero Y, Pascuali N, Velázquez C, et al. SARS-CoV-2 infection negatively affects ovarian function in ART patients. Biochim Biophys Acta Mol Basis Dis 2022; 1868: 166295. <https://doi.org/10.1016/j.bbadis.2021.166295> <PubMed>
27. Wu YT, Zhang JY, Hou NN, et al. Preliminary proteomic analysis on the alterations in follicular fluid proteins from women undergoing natural cycles or controlled ovarian hyperstimulation. J Assist Reprod Genet 2015; 32: 417–27. <https://doi.org/10.1007/s10815-014-0419-5> <PubMed>
28. Bonello N, McKie K, Jasper M, et al. Inhibition of nitric oxide: Effects on interleukin-lβ-enhanced ovulation rate, steroid hormones, and ovarian leukocyte distribution at ovulation in the rat. Biol Reprod 1996; 54: 436–45. <https://doi.org/10.1095/biolreprod54.2.436>
29. Kaipia A, Hsueh AJ. Regulation of ovarian follicle atresia. Annu Rev Physiol 1997; 59: 349–63. <https://doi.org/10.1146/annurev.physiol.59.1.349>
30. Orvieto R, Segev-Zahav A, Aizer A. Does COVID-19 infection influence patients’ performance during IVF-ET cycle?: an observational study. Gynecol Endocrinol 2021; 37: 895–7. <https://doi.org/10.1080/09513590.2021.1918080>
31. Chamani IJ, McCulloh DH, Grifo JA, Licciardi FL. COVID-19 and ART outcomes. Fertil Steril 2020; 114: E556. <https://doi.org/10.1016/j.fertnstert.2020.09.101>
32. Carp-Veliscu A, Mehedintu C, Frincu F, et al. The Effects of SARS-CoV-2 Infection on Female Fertility: A Review of the Literature. Int J Environ Res Public Health 2022; 19(2): 984. <https://doi.org/10.3390/ijerph19020984> <PubMed>
front cover

ISSN 1211-4286 (Print) ISSN 1805-9694 (Online)

Open access journal

Archive