Cargando…
Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis
BACKGROUND: Small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome of unknown origin by conventional cytogenetics. The understanding of clinical significance of sSMC is still limited in prenatal diagnosis. The presence of sSMC poses a challenge for genetic counselling. ME...
Autores principales: | , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476427/ https://www.ncbi.nlm.nih.gov/pubmed/37667392 http://dx.doi.org/10.1186/s13039-023-00655-z |
_version_ | 1785100930068250624 |
---|---|
author | Yang, Yang Hao, Wang |
author_facet | Yang, Yang Hao, Wang |
author_sort | Yang, Yang |
collection | PubMed |
description | BACKGROUND: Small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome of unknown origin by conventional cytogenetics. The understanding of clinical significance of sSMC is still limited in prenatal diagnosis. The presence of sSMC poses a challenge for genetic counselling. METHODS: We obtained the clinical information of 25 cases with sSMC. The fetal samples were subjected to multiple molecular and cytogenetic approaches including karyotype analysis, chromosomal microarray analysis, bacterial artificial chromosomes-on-beads assay, and fluorescence in situ hybridization. RESULTS: Seven sSMCs were found to be r(X), and five of the cases terminated the pregnancy. Three markers were idic(15), and one of the cases was normal at birth. Two markers were i(12p), and both cases terminated the pregnancy. Other markers were r(Y) (outcome: normal at birth), i(18p) (outcome: stillbirth), der(15) (outcome: terminated), del(9) (outcome: terminated), dup(13) (outcome: follow-up loss), and derived from chromosome 21 (outcome: stillbirth). Seven markers were of unknown origin because not all methods were applied to them. CONCLUSION: Applying multiple molecular and cytogenetic approaches could identify the origin and genetic content of sSMC to assist the genetic counselling in prenatal diagnosis. |
format | Online Article Text |
id | pubmed-10476427 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-104764272023-09-05 Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis Yang, Yang Hao, Wang Mol Cytogenet Research BACKGROUND: Small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome of unknown origin by conventional cytogenetics. The understanding of clinical significance of sSMC is still limited in prenatal diagnosis. The presence of sSMC poses a challenge for genetic counselling. METHODS: We obtained the clinical information of 25 cases with sSMC. The fetal samples were subjected to multiple molecular and cytogenetic approaches including karyotype analysis, chromosomal microarray analysis, bacterial artificial chromosomes-on-beads assay, and fluorescence in situ hybridization. RESULTS: Seven sSMCs were found to be r(X), and five of the cases terminated the pregnancy. Three markers were idic(15), and one of the cases was normal at birth. Two markers were i(12p), and both cases terminated the pregnancy. Other markers were r(Y) (outcome: normal at birth), i(18p) (outcome: stillbirth), der(15) (outcome: terminated), del(9) (outcome: terminated), dup(13) (outcome: follow-up loss), and derived from chromosome 21 (outcome: stillbirth). Seven markers were of unknown origin because not all methods were applied to them. CONCLUSION: Applying multiple molecular and cytogenetic approaches could identify the origin and genetic content of sSMC to assist the genetic counselling in prenatal diagnosis. BioMed Central 2023-09-04 /pmc/articles/PMC10476427/ /pubmed/37667392 http://dx.doi.org/10.1186/s13039-023-00655-z Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Yang, Yang Hao, Wang Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis |
title | Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis |
title_full | Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis |
title_fullStr | Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis |
title_full_unstemmed | Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis |
title_short | Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis |
title_sort | molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476427/ https://www.ncbi.nlm.nih.gov/pubmed/37667392 http://dx.doi.org/10.1186/s13039-023-00655-z |
work_keys_str_mv | AT yangyang molecularandcytogeneticanalysisofsmallsupernumerarymarkerchromosomesinprenataldiagnosis AT haowang molecularandcytogeneticanalysisofsmallsupernumerarymarkerchromosomesinprenataldiagnosis |