Trisomia 18 en mosaico. Serie de casos

Translated title of the contribution: Mosaic trisomy 18. Series of cases

Francisco Cammarata-Scalisi, Maria A. Lacruz-Rengel, Dianora Araque, Gloria Da Silva, Andrea Avendaño, Michele Callea, Frances Stock, Yudith Guerrero, Eliomar Aguilar, Maria J. Lacruz, Jesús Sulbaran

Research output: Contribution to journalArticle

Abstract

Trisomy 18 syndrome (T18) is a clinical and genetic disorder, which has a full extra chromosome 18 in each cell, variant that is called free trisomy. In addition, it can occur in partial and mosaic form. It is characterized by intrauterine growth restriction, psychomotor and mental retardation, characteristic craniofacial findings, congenital heart disease, hypoplastic pelvis, clenched hand and rocker-bottom foot, among others. The mosaic T18 occurs when cells with T18 and normal cell lines exist in the same individual and correspond to 5% of cases. The phenotypic findings are highly variable and no correlation was evident between the percentage of trisomic cells and the findings found. The aim of this report is to present a series of five cases of mosaic T18 with emphasis on clinical aspects in order to guide an interdisciplinary adequate medical care and provide timely genetic counseling.

Translated title of the contributionMosaic trisomy 18. Series of cases
Original languageSpanish
Pages (from-to)e183-e186
JournalArchivos Argentinos de Pediatria
Volume115
Issue number3
DOIs
Publication statusPublished - Jun 1 2017

Keywords

  • Genetic counseling
  • Mosaicism
  • Trisomy 18

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Cammarata-Scalisi, F., Lacruz-Rengel, M. A., Araque, D., Da Silva, G., Avendaño, A., Callea, M., Stock, F., Guerrero, Y., Aguilar, E., Lacruz, M. J., & Sulbaran, J. (2017). Trisomia 18 en mosaico. Serie de casos. Archivos Argentinos de Pediatria, 115(3), e183-e186. https://doi.org/10.5546/aap.2017.e183