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Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome

BACKGROUND: The aim of this study was to explore the source and morphology of a small supernumerary marker chromosome (sSMC) from karyotype analysis of a patient with a unique case of mosaic Turner syndrome. The study findings will provide technical reference and genetic counseling for similar cases...

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Autores principales: Li, Chao, Luo, Weiyao, Xiao, Tingting, Yang, Xingkun, Ou, Miaoling, Zhang, Linghua, Huang, Xiang, Zhu, Xiaodan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8894671/
https://www.ncbi.nlm.nih.gov/pubmed/35252057
http://dx.doi.org/10.3389/fped.2022.799284
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author Li, Chao
Luo, Weiyao
Xiao, Tingting
Yang, Xingkun
Ou, Miaoling
Zhang, Linghua
Huang, Xiang
Zhu, Xiaodan
author_facet Li, Chao
Luo, Weiyao
Xiao, Tingting
Yang, Xingkun
Ou, Miaoling
Zhang, Linghua
Huang, Xiang
Zhu, Xiaodan
author_sort Li, Chao
collection PubMed
description BACKGROUND: The aim of this study was to explore the source and morphology of a small supernumerary marker chromosome (sSMC) from karyotype analysis of a patient with a unique case of mosaic Turner syndrome. The study findings will provide technical reference and genetic counseling for similar cases. CASE PRESENTATION: A female patient with 46,X,+mar karyotype was diagnosed by genetic karyotype analysis. Genetic methods including fluorescence in situ hybridization (FISH) and copy number variation sequencing (CNV-seq) based on low-depth whole-genome sequencing were used to explore the source and morphology of sSMC. FISH technology showed that 56.5% of the cells were X and 43.5% of the cells were XY. CNV-seq detection found that the sSMC was chrY, implying that the patient's karyotype was mos 45,X[58.6%]/46,XY[41.4%]. Retrospective karyotype analysis indicated that the female patient's sSMC was inherited from her father's small chrY. Customized FISH probe of Yq12 microdeletion was positive, indicating that the sSMC was a del(Y)(q12). Based on the results of genetic diagnosis, the specialist doctor gave a comprehensive genetic consultation and ordered regular follow-up examinations. CONCLUSIONS: The findings of the current study showed that the chromosome description of the unique Turner case was mos 45,X[56.5%]/46,X,del(Y)(q12)[43.5%]. FISH technology played a key role in diagnosis of mosaicism. The terminal deletion of mosaic chrY provided a scientific and an accurate explanation for masculinity failure and abnormal sexual development of the current case.
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spelling pubmed-88946712022-03-05 Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome Li, Chao Luo, Weiyao Xiao, Tingting Yang, Xingkun Ou, Miaoling Zhang, Linghua Huang, Xiang Zhu, Xiaodan Front Pediatr Pediatrics BACKGROUND: The aim of this study was to explore the source and morphology of a small supernumerary marker chromosome (sSMC) from karyotype analysis of a patient with a unique case of mosaic Turner syndrome. The study findings will provide technical reference and genetic counseling for similar cases. CASE PRESENTATION: A female patient with 46,X,+mar karyotype was diagnosed by genetic karyotype analysis. Genetic methods including fluorescence in situ hybridization (FISH) and copy number variation sequencing (CNV-seq) based on low-depth whole-genome sequencing were used to explore the source and morphology of sSMC. FISH technology showed that 56.5% of the cells were X and 43.5% of the cells were XY. CNV-seq detection found that the sSMC was chrY, implying that the patient's karyotype was mos 45,X[58.6%]/46,XY[41.4%]. Retrospective karyotype analysis indicated that the female patient's sSMC was inherited from her father's small chrY. Customized FISH probe of Yq12 microdeletion was positive, indicating that the sSMC was a del(Y)(q12). Based on the results of genetic diagnosis, the specialist doctor gave a comprehensive genetic consultation and ordered regular follow-up examinations. CONCLUSIONS: The findings of the current study showed that the chromosome description of the unique Turner case was mos 45,X[56.5%]/46,X,del(Y)(q12)[43.5%]. FISH technology played a key role in diagnosis of mosaicism. The terminal deletion of mosaic chrY provided a scientific and an accurate explanation for masculinity failure and abnormal sexual development of the current case. Frontiers Media S.A. 2022-02-18 /pmc/articles/PMC8894671/ /pubmed/35252057 http://dx.doi.org/10.3389/fped.2022.799284 Text en Copyright © 2022 Li, Luo, Xiao, Yang, Ou, Zhang, Huang and Zhu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Li, Chao
Luo, Weiyao
Xiao, Tingting
Yang, Xingkun
Ou, Miaoling
Zhang, Linghua
Huang, Xiang
Zhu, Xiaodan
Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome
title Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome
title_full Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome
title_fullStr Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome
title_full_unstemmed Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome
title_short Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome
title_sort case report: genetic analysis of a small supernumerary marker chromosome in a unique case of mosaic turner syndrome
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8894671/
https://www.ncbi.nlm.nih.gov/pubmed/35252057
http://dx.doi.org/10.3389/fped.2022.799284
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