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Open Access 01-12-2024 | Trisomy | Case Report

Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case

Authors: Maria Papamichail, Anna Eleftheriades, Emmanouil Manolakos, Adamantia Papamichail, Panagiotis Christopoulos, Gwendolin Manegold-Brauer, Makarios Eleftheriades

Published in: BMC Women's Health | Issue 1/2024

Abstract

18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome has un-specific clinical features which vary significantly between patients and may overlap with other genetic conditions. Its prenatal description is extremely rare as the fetal phenotype is often not present during pregnancy. Trisomy 8p Syndrome is characterized by heterogenous phenotype, with the most frequent components to be cardiac malformation, developmental and intellectual delay. Its prenatal diagnosis is very rare due to the unspecific sonographic features of the affected fetuses. We present a very rare case of a fetus with multiple anomalies diagnosed during the second trimester whose genomic analysis revealed a 18p Deletion and 8p trisomy Syndrome. This is the first case where this combination of DNA mutations has been described prenatally and the second case in general. The presentation of this case, as well as the detailed review of all described cases, aim to expand the existing knowledge regarding this rare condition facilitating its diagnosis in the future.

Brenk CH, Prott EC, Trost D, Hoischen A, Walldorf C, Radlwimmer B, Wieczorek D, Propping P, Gillessen-Kaesbach G, Weber RG, Engels H. Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation. Eur J Hum Genet. 2007;15(1):35–44. https://doi.org/10.1038/sj.ejhg.5201718. Epub 2006 Oct 4. PMID: 17024214.

Turleau C. Monosomy 18p. Orphanet J Rare Dis. 2008;3:4. https://doi.org/10.1186/1750-1172-3-4. Published 2008 Feb 19.CrossRefPubMedPubMedCentral

Koshy B, Mandal K, Srivastava VM, Loius PT, Danda S. Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation. Clin Dysmorphol. 2011;20(3):148–51. https://doi.org/10.1097/MCD.0b013e328343b9b9. PMID: 21389850.CrossRefPubMed

Udayakumar AM, Al-Kindy A. A rare case of de novo mosaicism: deletion 18p and isochromosome 18q syndrome. J Pediatr Genet. 2013;2(3):141–6. https://doi.org/10.3233/PGE-13058. PMID: 27625852; PMCID: PMC5020969.CrossRefPubMedPubMedCentral

Zhao G, Dai P, Gao S, Zhao X, Wang C, Liu L, Kong X. A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing. Mol Cytogenet. 2019;12:53. https://doi.org/10.1186/s13039-019-0464-y. PMID: 31890033; PMCID: PMC6925888.CrossRefPubMedPubMedCentral

Akkurt MO, Higgs A, Turan OT, Turan OM, Turan S. Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18. Am J Med Genet Part A. 2017;173(3):776–9.CrossRefPubMed

Burnside RD, Pappas JG, Sacharow S, Applegate C, Hamosh A, Gadi IK, et al. Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype. Am J Med Genet Part A. 2013;161(4):822–8.CrossRef

Shi P, Wang C, Zheng Y, Kong X. Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family. BMC Medical Genomics [Internet]. 2021 Mar 23 [cited 2022 Aug 15];14(1). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7988938/.

Sebold C, Soileau B, Heard P, Carter E, O’Donnell L, Hale DE, Cody JD. Whole arm deletions of 18p: medical and developmental effects. Am J Med Genet A. 2015;167A(2):313–23. https://doi.org/10.1002/ajmg.a.36880. Epub 2015 Jan 14. PMID: 25586871.CrossRefPubMed

10.

Jin Q, Qiang R, Cai B, Wang X, Cai N, Zhen S, Zhai W. The genotype and phenotype of chromosome 18p deletion syndrome: Case series. Med (Baltim). 2021;100(18):e25777. https://doi.org/10.1097/MD.0000000000025777. PMID: 33950970; PMCID: PMC8104293.CrossRef

11.

Chen CP, Lin SP, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Chen WL, Wang W. A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows. Taiwan J Obstet Gynecol. 2018;57(4):583–587. https://doi.org/10.1016/j.tjog.2018.06.019. PMID: 30122583.

12.

Hasi-Zogaj M, Sebold C, Heard P, Carter E, Soileau B, Hill A, Rupert D, Perry B, Atkinson S, O’Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE, Cody JD. A review of 18p deletions. Am J Med Genet C Semin Med Genet. 2015;169(3):251–64. https://doi.org/10.1002/ajmg.c.31445. Epub 2015 Aug 6. PMID: 26250845.CrossRefPubMed

13.

Fogu G, Capobianco G, Cambosu F, Bandiera P, Pirino A, Moro MA, Campus PM, Soro G, Dessole M, Montella A. Prenatal diagnosis and molecular cytogenetic characterisation of a de novo 18p deletion. J Obstet Gynaecol. 2014;34(2):192-3. https://doi.org/10.3109/01443615.2013.834300. PMID: 24456448.

14.

Schaub RL, Reveles XT, Baillargeon J, Leach RJ, Cody JD. Molecular characterization of 18p deletions: evidence for a breakpoint cluster. Genet Med. 2002;4(1):15–9.CrossRefPubMed

15.

Schinzel A. Autosomale Chromosomenaberrationen [Autosomal chromosome aberrations]. Arch Genet (Zur). 1979;52(1–2):1–204. German. PMID: 389192.PubMed

16.

Wester U, Bondeson ML, Edeby C, Annerén G. Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. Am J Med Genet A. 2006;140(11):1164–71.CrossRefPubMed

17.

Thompson RW, Peters JE, Smith SD. Intellectual, behavioral, and linguistic characteristics of three children with 18p- syndrome. J Dev Behav Pediatr. 1986;7:1–7.CrossRefPubMed

18.

Vermeulen SJ, Speleman F, Vanransbeeck L, Verspeet J, Menten B, VerschraegenSpae M, et al. Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/ Del(18q) or dup(18q)/del(18p) recombinant chromosome. Eur J Hum Genet. 2005;13:52–8.CrossRefPubMed

19.

Le TNU, Nguyen VN, Doan TDA, et al. An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 mb pure deletion at 18p11.32-11.22. Nagoya J Med Sci. 2020;82(4):783–90. https://doi.org/10.18999/nagjms.82.4.783.CrossRefPubMedPubMedCentral

20.

Bertolino E, Reimund B, Wildt-Perinic D, Clerc RG. A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif. J Biol Chem. 1995;270:31178–88.CrossRefPubMed

21.

Muenke M, Beachy PA. Genetics of ventral forebrain development and holoprosencephaly. Curr Opin Genet Dev. 2000;10:262–9.CrossRefPubMed

22.

Nanni L, Ming JE, Bocian M, et al. The mutational spectrum of the Sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant portion of autosomal dominant holoprosencephaly. Hum Mol Genet. 1999;8:2479–88.CrossRefPubMed

23.

Wallis DE, Muenke M. Mutations in holoprosencephaly. Hum Mutat. 2000;16:99–108.CrossRefPubMed

24.

Chen CP, Chern SR, Wang W, Lee CC, Chen WL, Chen LF, Chang TY, Tzen CY. Prenatal diagnosis of partial monosomy 18p(18p11.2–>pter) and trisomy 21q(21q22.3–>qter) with alobar holoprosencephaly and premaxillary agenesis. Prenat Diagn. 2001;21(5):346 – 50. https://doi.org/10.1002/pd.63. PMID: 11360273.

25.

Chen CP, Kuo YT, Lin SP, Su YN, Chen YJ, Hsueh RY, Lin YH, Wu PC, Lee CC, Chen YT, Wang W. Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization. Taiwan J Obstet Gynecol. 2010;49(3):327 – 32. https://doi.org/10.1016/S1028-4559(10)60069-1. PMID: 21056319.

26.

Crosiers D, Blaumeiser B, Van Goethem G. Spectrum of Movement disorders in 18p deletion syndrome. Mov Disord Clin Pract. 2018;6(1):70–3. https://doi.org/10.1002/mdc3.12707. Published 2018 Dec 6.CrossRefPubMedPubMedCentral

27.

Xie CH, Yang JB, Gong FQ, Zhao ZY. Patent ductus arteriosus and pulmonary valve stenosis in a patient with 18p deletion syndrome. Yonsei Med J. 2008;49(3):500–2. https://doi.org/10.3349/ymj.2008.49.3.500. PMID: 18581602; PMCID: PMC2615354.CrossRefPubMedPubMedCentral

28.

Vasquez JC, Rabah R, Delius RE, Walters HL. Hypoplastic left heart syndrome with intact atrial septum associated with deletion of the short arm of chromosome 18. Cardiovasc Pathol. 2003 Mar-Apr;12(2):102-4. https://doi.org/10.1016/s1054-8807(02)00163-1. PMID: 12684167.

29.

Yang A, Kim J, Cho SY, Lee JE, Kim HJ, Jin DK. A case of de novo 18p deletion syndrome with panhypopituitarism. Ann Pediatr Endocrinol Metab. 2019;24(1):60–3. https://doi.org/10.6065/apem.2019.24.1.60. Epub 2019 Mar 31. PMID: 30943682; PMCID: PMC6449612.CrossRefPubMedPubMedCentral

30.

Yin A, Lu J, Liu C, Guo L, Wu J, Mai M, Zhong Y, Zhang X. A prenatal missed diagnosed case of submicroscopic chromosomal abnormalities by karyotyping: the clinical utility of array-based CGH in prenatal diagnostics. Mol Cytogenet. 2014;7:26. https://doi.org/10.1186/1755-8166-7-26. PMID: 24735551; PMCID: PMC4005634.CrossRefPubMedPubMedCentral

31.

Lee MJ, Park SH, Shim SH, Moon MJ, Cha DH. Prenatal diagnosis and molecular cytogenetic characterization of partial dup(18q)/del(18p) due to a paternal pericentric inversion 18 in a fetus with multiple anomalies. Taiwan J Obstet Gynecol. 2019;58(3):318–323. https://doi.org/10.1016/j.tjog.2019.03.005. PMID: 31122516.

32.

Barber JC, Joyce CA, Collinson MN, Nicholson JC, Willatt LR, Dyson HM, Bateman MS, Green AJ, Yates JR, Dennis NR. Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance. J Med Genet. 1998;35(6):491–6. https://doi.org/10.1136/jmg.35.6.491. PMID: 9643291; PMCID: PMC1051344.CrossRefPubMedPubMedCentral

33.

Barber JC, Rosenfeld JA, Graham JM, Kramer N, Lachlan KL, Bateman MS, Collinson MN, Stadheim BF, Turner CL, Gauthier JN, et al. Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical signifcance. Am J Med Genet A. 2015;167A(9):2052–64.CrossRefPubMed

34.

Papanikolaou K, Paliokosta E, Gyftodimou J, Kolaitis G, Vgenopoulou S, Sarri C, et al. A case of partial trisomy of chromosome 8p Associated with Autism. J Autism Dev Disord. 2006;36(5):705–9.CrossRefPubMed

35.

Barber JC, Rosenfeld JA, Foulds N, Laird S, Bateman MS, Thomas NS, Baker S, Maloney VK, Anilkumar A, Smith WE, et al. 8p23.1 duplication syndrome; common, confrmed, and novel features in six further patients. Am J Med Genet A. 2013;161A(3):487–500.CrossRefPubMed

36.

Digilio MC, Giannotti A, Floridia G, Uccellatore F, Mingarelli R, Danesino C et al. Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development. Journal of Medical Genetics [Internet]. 1994;31(3):238–41. https://pubmed.ncbi.nlm.nih.gov/8014974/.

37.

Gibbons B, Tan SY, Barber JCK, Ng CF, Knight LA, Lam S et al. Duplication of 8p with minimal phenotypic effect transmitted from a mother to her two daughters. Journal of Medical Genetics [Internet]. 1999 May 1 [cited 2022 Aug 14];36(5):419–22. https://jmg.bmj.com/content/36/5/419.

38.

Puvabanditsin S, Gengel N, Botti C, Jacob M, Jalil M, Cabrera K et al. 8p11 Microduplication Is Associated with Neonatal Stridor. Molecular Syndromology [Internet]. 2018 [cited 2022 Apr 28];9(6):324–7. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381896.

39.

Engelen JJ, de Die-Smulders CE, Sijstermans JM, Meers LE, Albrechts JC, Hamers AJ. Familial partial trisomy 8p without dysmorphic features and only mild mental retardation. J Med Genet. 1995;32(10):792–5. https://doi.org/10.1136/jmg.32.10.792. PMID: 8558557; PMCID: PMC1051702.CrossRefPubMedPubMedCentral

40.

Glancy M, Barnicoat A, Vijeratnam R, de Souza S, Gilmore J, Huang S et al. Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. European journal of human genetics: EJHG [Internet]. 2009 Jan 1 [cited 2022 Aug 15];17(1):37–43. https://pubmed.ncbi.nlm.nih.gov/18716609/.

41.

Fisch GS, Davis R, Youngblom J, Gregg J. Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome. Behav Genet. 2011;41(3):373 – 80. doi: 10.1007/s10519-011-9447-4. Epub 2011 Jan 23. PMID: 21259039; PMCID: PMC4557779.

42.

Dong P, Xu Q, An Y, Zhou B-R, Lu P, Liu R-C et al. A Novel 1.0 Mb Duplication of Chromosome 8p22-21.3 in a Patient With Autism Spectrum Disorder. Child Neurology Open [Internet]. 2015 Apr 1 [cited 2022 Aug 14];2(2):1–6. https://pubmed.ncbi.nlm.nih.gov/35187197/.

43.

Gug C, Stoicanescu D, Mozos I, Nussbaum L, Cevei M, Stambouli D et al. De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review. Frontiers in Pediatrics [Internet]. 2020 Jul 8 [cited 2022 Aug 15];8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7362762/.

44.

Pope K, Samanich J, Ramesh KH, Cannizzaro L, Pan Q, Babcock M. Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication. American Journal of Medical Genetics Part A [Internet]. 2012 Mar 1 [cited 2022 Aug 15];158A(3):641–7. https://pubmed.ncbi.nlm.nih.gov/22302699/.

45.

Soler A, Sánchez A, Carrió A, Badenas C, Milà M, Borrell A. Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis. Prenat Diagn. 2003;23(4):319–22.CrossRefPubMed

46.

Pendina AA, Shilenkova YV, Talantova OE, et al. Reproductive History of a woman with 8p and 18p genetic imbalance and minor phenotypic abnormalities. Front Genet. 2019;10:1164. https://doi.org/10.3389/fgene.2019.01164. Published 2019 Nov 20.CrossRefPubMedPubMedCentral

47.

Lustosa-Mendes E, Dos Santos AP, Viguetti-Campos NL, Vieira TP, Gil-da-Silva-Lopes VL. A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature. Am J Med Genet A. 2017;173(1):143–50. Epub 2016 Sep 15. PMID: 27633903.CrossRefPubMed

48.

Qi H, Zhu J, Zhang S, Cai L, Wen X, Zeng W, Tang G, Luo Y. Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis: three case reports. Med (Baltim). 2019;98(14):e15027. https://doi.org/10.1097/MD.0000000000015027. PMID: 30946338; PMCID: PMC6456123.CrossRef

49.

Nakano S, Okuno T, Hojo H, Misawa S, Abe T. 18p–syndrome associated with hemivertebrae, fused ribs and micropenis. Jinrui Idengaku Zasshi. 1977;22(1):27–32. https://doi.org/10.1007/BF01908282. PMID: 926416.

Title: Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case
Authors: Maria Papamichail
Anna Eleftheriades
Emmanouil Manolakos
Adamantia Papamichail
Panagiotis Christopoulos
Gwendolin Manegold-Brauer
Makarios Eleftheriades
Publication date: 01-12-2024
Publisher: BioMed Central
Keywords: Trisomy
Ventricular Septal Defect
Ventricular Septal Defect
Published in: BMC Women's Health / Issue 1/2024
Electronic ISSN: 1472-6874
DOI: https://doi.org/10.1186/s12905-024-03081-4

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Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case

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