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J Pediatr Genet 2023; 12(01): 064-068
DOI: 10.1055/s-0040-1721076
Case Report

Mosaic Trisomy 5: Prenatal Genetic Diagnosis and Outcomes of a New Case

Ángeles Sánchez-Herrero   *
1   Cytogenetics and Molecular Biology Unit, Department of Clinical Analysis, Hospital Universitario Doctor Peset, Valencia, Spain
,
Diego Carmona-Talavera   *
1   Cytogenetics and Molecular Biology Unit, Department of Clinical Analysis, Hospital Universitario Doctor Peset, Valencia, Spain
,
M Elia García-Verdevio
2   Department of Gynecology and Obstetrics, Hospital Universitario Doctor Peset, Valencia, Spain
,
Amaya Hernando-Espinilla
1   Cytogenetics and Molecular Biology Unit, Department of Clinical Analysis, Hospital Universitario Doctor Peset, Valencia, Spain
,
Nuria Estañ-Capell
1   Cytogenetics and Molecular Biology Unit, Department of Clinical Analysis, Hospital Universitario Doctor Peset, Valencia, Spain
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Abstract

Chromosomal mosaicism is defined as the presence of two or more different cell lines in an organism that originate from the same embryo. Trisomy of chromosome 5 is one of the most severe forms of autosomal trisomy and only seven cases of mosaic trisomy 5 have been reported to date. Mosaicism at prenatal level constitutes a challenge in genetic counseling, particularly in the case of mosaic trisomy 5, due to its low incidence. We report the case of a girl with a prenatal diagnosis of mosaic trisomy 5. The pre- and postnatal genetic tests (noninvasive prenatal testing, array comparative genomic hybridization, karyotype in amniotic fluid cells, karyotype in peripheral blood, and uniparental disomy analysis) revealed the fetal chromosomal status and indicated etiology giving rise to the mosaicism, suggesting a prezygotic meiotic error corrected through late trisomic rescue in the zygote.

Keywords

trisomy 5 - mosaicism - prenatal diagnosis - trisomic rescue

* These authors contributed equally to the present work.




Publication History

Received: 01 August 2020

Accepted: 11 October 2020

Article published online:
19 November 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
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  • References

  • 1 McGowan-Jordan J, Simons ASM. ISCN 2016: an International System for Human Cytogenomic Nomenclature. Cytogenet Genome Res 2016; 149: 1-3
    PubMedGoogle Scholar
  • 2 Gardner RJ, Sutherland GR, Shaffer LG. Chromosome Abnormalities and Genetic Counseling. New York: Oxford University Press; 2011
    CrossrefGoogle Scholar
  • 3 Cuatrecasas E, Masip E, Escabias T. et al. Mosaicos cromosómicos en vellosidad corial. Diagnóstico Prenatal 2013; 24: 99-107
    CrossrefPubMedGoogle Scholar
  • 4 Riegel M, Wisser J, Baumer A, Schinzel A. Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations. Prenat Diagn 2006; 26 (03) 221-225
    CrossrefPubMedGoogle Scholar
  • 5 Spinner NB, Conlin LK. Mosaicism and clinical genetics. Am J Med Genet C Semin Med Genet 2014; 166C (04) 397-405
    CrossrefPubMedGoogle Scholar
  • 6 Grati FR, Grimi B, Frascoli G. et al. Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi. Eur J Hum Genet 2006; 14 (03) 282-288
    CrossrefPubMedGoogle Scholar
  • 7 Iourov IY, Vorsanova SG, Yurov YB, Kutsev SI. Ontogenetic and pathogenetic views on somatic chromosomal mosaicism. Genes (Basel) 2019; 10 (05) E379
    CrossrefPubMedGoogle Scholar
  • 8 Reittinger AM, Helm BM, Boles DJ, Gadi IK, Schrier Vergano SA. A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies. Am J Med Genet A 2017; 173 (09) 2528-2533
    CrossrefPubMedGoogle Scholar
  • 9 Villa N, Redaelli S, Borroni C. et al. Fetal trisomy 5 mosaicism: case report and literature review. Am J Med Genet A 2007; 143A (19) 2343-2346
    CrossrefPubMedGoogle Scholar
  • 10 Chen CP, Chang SJ, Chern SR. et al. Rapid diagnosis of pseudomosaicism in a case of Level II mosaicism for trisomy 5 in a single colony from an in situ culture of amniocytes and a review of mosaic trisomy 5 at amniocentesis. Taiwan J Obstet Gynecol 2016; 55 (04) 602-603
    CrossrefPubMedGoogle Scholar
  • 11 Renga B. Non invasive prenatal diagnosis of fetal aneuploidy using cell free fetal DNA. Eur J Obstet Gynecol Reprod Biol 2018; 225: 5-8
    CrossrefPubMedGoogle Scholar
  • 12 Novik V, Moulton EB, Sisson ME. et al. The accuracy of chromosomal microarray testing for identification of embryonic mosaicism in human blastocysts. Mol Cytogenet 2014; 7 (01) 18
    CrossrefPubMedGoogle Scholar
  • 13 Yamazawa K, Ogata T, Ferguson-Smith AC. Uniparental disomy and human disease: an overview. Am J Med Genet C Semin Med Genet 2010; 154C (03) 329-334
    CrossrefPubMedGoogle Scholar
  • 14 Kalousek DK, Vekemans M. Confined placental mosaicism. J Med Genet 1996; 33 (07) 529-533
    CrossrefPubMedGoogle Scholar
  • 15 Richkind KE, Apostol RA, Puck SM. Prenatal detection of trisomy 5 mosaicism with normal outcome. Prenat Diagn 1987; 7 (02) 143-143
    CrossrefPubMedGoogle Scholar
  • 16 Casamassima AC, Wilmot PL, Mahoney MJ, Scott RV, Shapiro LR. Trisomy 5 mosaicism in amniotic fluid with normal outcome. Clin Genet 1989; 35 (04) 282-284
    CrossrefPubMedGoogle Scholar
  • 17 Sciorra LJ, Hux C, Day-Salvadore D. et al. Trisomy 5 mosaicism detected prenatally with an affected liveborn. Prenat Diagn 1992; 12 (06) 477-482
    CrossrefPubMedGoogle Scholar
  • 18 Brzustowicz LM, Allitto BA, Matseoane D. et al. Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy. Am J Hum Genet 1994; 54 (03) 482-488
    PubMedGoogle Scholar