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Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid

Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without congenital malformations, the prognosis is usually positive, but it has high lethality...

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Autores principales: Vinciguerra, Margherita, Leto, Filippo, Cassarà, Filippo, Tartaglia, Viviana, Malacarne, Michela, Coviello, Domenico, Cigna, Valentina, Orlandi, Emanuela, Picciotto, Francesco, Cucinella, Gaspare, Salzano, Emanuela, Piccione, Maria, Maggio, Aurelio, Giambona, Antonino
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9863495/
https://www.ncbi.nlm.nih.gov/pubmed/36675969
http://dx.doi.org/10.3390/life13010020
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author Vinciguerra, Margherita
Leto, Filippo
Cassarà, Filippo
Tartaglia, Viviana
Malacarne, Michela
Coviello, Domenico
Cigna, Valentina
Orlandi, Emanuela
Picciotto, Francesco
Cucinella, Gaspare
Salzano, Emanuela
Piccione, Maria
Maggio, Aurelio
Giambona, Antonino
author_facet Vinciguerra, Margherita
Leto, Filippo
Cassarà, Filippo
Tartaglia, Viviana
Malacarne, Michela
Coviello, Domenico
Cigna, Valentina
Orlandi, Emanuela
Picciotto, Francesco
Cucinella, Gaspare
Salzano, Emanuela
Piccione, Maria
Maggio, Aurelio
Giambona, Antonino
author_sort Vinciguerra, Margherita
collection PubMed
description Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without congenital malformations, the prognosis is usually positive, but it has high lethality in utero, especially in the first trimester of pregnancy. Methods: We report a case of monosomy X detected during a prenatal diagnosis for beta thalassemia on coelomic fluid (CF) at the VIII week of gestation. Beta globin gene analysis, whole genome amplification (WGA), quantitative fluorescent PCR and array comparative genomic hybridization (array-CGH) were performed on DNA extracted from CF. Results: A monoallelic pattern of all Short Tandem Repeats mapped on the X chromosome was found and array-CGH performed on WGA from a few fetal erythroblasts confirmed monosomy X. Conclusion: This report underlines the importance of an early prenatal diagnosis and the countless potentialities of array-CGH that could make definition of molecular karyotype possible from a few fetal cells, unlike conventional cytogenetic techniques that require a greater cellular content. This is the first report of a molecular karyotype obtained from two cells selected by micromanipulation of CF and defined at such an early gestational age.
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spelling pubmed-98634952023-01-22 Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid Vinciguerra, Margherita Leto, Filippo Cassarà, Filippo Tartaglia, Viviana Malacarne, Michela Coviello, Domenico Cigna, Valentina Orlandi, Emanuela Picciotto, Francesco Cucinella, Gaspare Salzano, Emanuela Piccione, Maria Maggio, Aurelio Giambona, Antonino Life (Basel) Article Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without congenital malformations, the prognosis is usually positive, but it has high lethality in utero, especially in the first trimester of pregnancy. Methods: We report a case of monosomy X detected during a prenatal diagnosis for beta thalassemia on coelomic fluid (CF) at the VIII week of gestation. Beta globin gene analysis, whole genome amplification (WGA), quantitative fluorescent PCR and array comparative genomic hybridization (array-CGH) were performed on DNA extracted from CF. Results: A monoallelic pattern of all Short Tandem Repeats mapped on the X chromosome was found and array-CGH performed on WGA from a few fetal erythroblasts confirmed monosomy X. Conclusion: This report underlines the importance of an early prenatal diagnosis and the countless potentialities of array-CGH that could make definition of molecular karyotype possible from a few fetal cells, unlike conventional cytogenetic techniques that require a greater cellular content. This is the first report of a molecular karyotype obtained from two cells selected by micromanipulation of CF and defined at such an early gestational age. MDPI 2022-12-21 /pmc/articles/PMC9863495/ /pubmed/36675969 http://dx.doi.org/10.3390/life13010020 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Vinciguerra, Margherita
Leto, Filippo
Cassarà, Filippo
Tartaglia, Viviana
Malacarne, Michela
Coviello, Domenico
Cigna, Valentina
Orlandi, Emanuela
Picciotto, Francesco
Cucinella, Gaspare
Salzano, Emanuela
Piccione, Maria
Maggio, Aurelio
Giambona, Antonino
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid
title Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid
title_full Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid
title_fullStr Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid
title_full_unstemmed Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid
title_short Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid
title_sort incidental detection of a chromosomal aberration by array-cgh in an early prenatal diagnosis for monogenic disease on coelomic fluid
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9863495/
https://www.ncbi.nlm.nih.gov/pubmed/36675969
http://dx.doi.org/10.3390/life13010020
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