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Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing

Interpreting the clinical significance of small supernumerary marker chromosomes (sSMCs) in prenatal diagnosis is still an urgent problem in genetic counselling regarding the fate of a pregnancy. We present a case of prenatal diagnosis of mosaic sSMC(10) in a foetus with a normal phenotype. Comprehe...

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Autores principales: Lebedev, Igor N., Karamysheva, Tatyana V., Elisaphenko, Eugeny A., Makunin, Alexey I., Zhigalina, Daria I., Lopatkina, Maria E., Drozdov, Gleb V., Cheremnykh, Aleksander D., Torkhova, Natalia B., Seitova, Gulnara N., Vasilyev, Stanislav A., Kashevarova, Anna A., Nazarenko, Ludmila P., Rubtsov, Nikolay B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391546/
https://www.ncbi.nlm.nih.gov/pubmed/34440234
http://dx.doi.org/10.3390/biomedicines9081030
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author Lebedev, Igor N.
Karamysheva, Tatyana V.
Elisaphenko, Eugeny A.
Makunin, Alexey I.
Zhigalina, Daria I.
Lopatkina, Maria E.
Drozdov, Gleb V.
Cheremnykh, Aleksander D.
Torkhova, Natalia B.
Seitova, Gulnara N.
Vasilyev, Stanislav A.
Kashevarova, Anna A.
Nazarenko, Ludmila P.
Rubtsov, Nikolay B.
author_facet Lebedev, Igor N.
Karamysheva, Tatyana V.
Elisaphenko, Eugeny A.
Makunin, Alexey I.
Zhigalina, Daria I.
Lopatkina, Maria E.
Drozdov, Gleb V.
Cheremnykh, Aleksander D.
Torkhova, Natalia B.
Seitova, Gulnara N.
Vasilyev, Stanislav A.
Kashevarova, Anna A.
Nazarenko, Ludmila P.
Rubtsov, Nikolay B.
author_sort Lebedev, Igor N.
collection PubMed
description Interpreting the clinical significance of small supernumerary marker chromosomes (sSMCs) in prenatal diagnosis is still an urgent problem in genetic counselling regarding the fate of a pregnancy. We present a case of prenatal diagnosis of mosaic sSMC(10) in a foetus with a normal phenotype. Comprehensive cytogenomic analyses by array-based comparative genomic hybridization (aCGH), sSMC microdissection with next-generation sequencing (NGS) of microdissected library, fluorescence in situ hybridization (FISH) with locus-specific and telomere-specific DNA probes and quantitative real-time PCR revealed that sSMC(10) had a ring structure and was derived from the pericentromeric region of chromosome 10 with involvement of the 10p11.21-p11.1 and 10q11.21-q11.23 at 1.243 Mb and 7.173 Mb in size, respectively. We observed a difference in the length of sSMC(10) between NGS data of the DNA library derived from a single copy of sSMC(10), and aCGH results that may indicate instability and structural mosaicism for ring chromosomes in foetal cells. The presence of a 9 Mb euchromatin region in the analysed sSMC(10) did not lead to clinical manifestations, and a healthy girl was born at term. We suggest that the ring structure of sSMCs could influence sSMC manifestations and should be taken into account in genetic counselling during prenatal diagnosis.
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spelling pubmed-83915462021-08-28 Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing Lebedev, Igor N. Karamysheva, Tatyana V. Elisaphenko, Eugeny A. Makunin, Alexey I. Zhigalina, Daria I. Lopatkina, Maria E. Drozdov, Gleb V. Cheremnykh, Aleksander D. Torkhova, Natalia B. Seitova, Gulnara N. Vasilyev, Stanislav A. Kashevarova, Anna A. Nazarenko, Ludmila P. Rubtsov, Nikolay B. Biomedicines Article Interpreting the clinical significance of small supernumerary marker chromosomes (sSMCs) in prenatal diagnosis is still an urgent problem in genetic counselling regarding the fate of a pregnancy. We present a case of prenatal diagnosis of mosaic sSMC(10) in a foetus with a normal phenotype. Comprehensive cytogenomic analyses by array-based comparative genomic hybridization (aCGH), sSMC microdissection with next-generation sequencing (NGS) of microdissected library, fluorescence in situ hybridization (FISH) with locus-specific and telomere-specific DNA probes and quantitative real-time PCR revealed that sSMC(10) had a ring structure and was derived from the pericentromeric region of chromosome 10 with involvement of the 10p11.21-p11.1 and 10q11.21-q11.23 at 1.243 Mb and 7.173 Mb in size, respectively. We observed a difference in the length of sSMC(10) between NGS data of the DNA library derived from a single copy of sSMC(10), and aCGH results that may indicate instability and structural mosaicism for ring chromosomes in foetal cells. The presence of a 9 Mb euchromatin region in the analysed sSMC(10) did not lead to clinical manifestations, and a healthy girl was born at term. We suggest that the ring structure of sSMCs could influence sSMC manifestations and should be taken into account in genetic counselling during prenatal diagnosis. MDPI 2021-08-17 /pmc/articles/PMC8391546/ /pubmed/34440234 http://dx.doi.org/10.3390/biomedicines9081030 Text en © 2021 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
Lebedev, Igor N.
Karamysheva, Tatyana V.
Elisaphenko, Eugeny A.
Makunin, Alexey I.
Zhigalina, Daria I.
Lopatkina, Maria E.
Drozdov, Gleb V.
Cheremnykh, Aleksander D.
Torkhova, Natalia B.
Seitova, Gulnara N.
Vasilyev, Stanislav A.
Kashevarova, Anna A.
Nazarenko, Ludmila P.
Rubtsov, Nikolay B.
Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing
title Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing
title_full Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing
title_fullStr Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing
title_full_unstemmed Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing
title_short Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing
title_sort prenatal diagnosis of small supernumerary marker chromosome 10 by array-based comparative genomic hybridization and microdissected chromosome sequencing
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391546/
https://www.ncbi.nlm.nih.gov/pubmed/34440234
http://dx.doi.org/10.3390/biomedicines9081030
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