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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...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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. |
format | Online Article Text |
id | pubmed-9863495 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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