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Analysis of the clinical features of pericentric inversion of chromosome 9

OBJECTIVE: The pericentric inversion of chromosome 9 (inv9) is one of the most common structural balanced chromosomal variations, and it is considered to be a normal population variant. The aim of this study was to re-evaluate the clinical impact of patients with inv9. METHODS: We studied the karyot...

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Autores principales: Xie, Xiaolei, Li, Fuguang, Tan, Weihe, Tang, Jiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7513406/
https://www.ncbi.nlm.nih.gov/pubmed/32957812
http://dx.doi.org/10.1177/0300060520957820
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author Xie, Xiaolei
Li, Fuguang
Tan, Weihe
Tang, Jiang
author_facet Xie, Xiaolei
Li, Fuguang
Tan, Weihe
Tang, Jiang
author_sort Xie, Xiaolei
collection PubMed
description OBJECTIVE: The pericentric inversion of chromosome 9 (inv9) is one of the most common structural balanced chromosomal variations, and it is considered to be a normal population variant. The aim of this study was to re-evaluate the clinical impact of patients with inv9. METHODS: We studied the karyotypes from 4853 patients at a single center and retrospectively reviewed their clinical data. RESULTS: There were 67 inv9 patients among 2988 adults, and 62 of them showed different clinical features, including male and female infertility, oligoasthenozoospermia, and azoospermia. Thirty-one cases of inv9 were found in 1865 fetuses, including two cases in chorionic villus (6.90%) and 29 in amniotic fluid (1.67%), but there were no cases in umbilical cord blood. The rates of fetal phenotype abnormal and adverse pregnancy outcome with inv9 in the chorionic villus were 100.00% (2/2), while only 17.24% (5/29) in the amniotic fluid showed abnormalities, among which 60.00% (3/5) had adverse pregnancy outcomes. CONCLUSIONS: Although there is no clear evidence that inv9 is pathogenic, the genetic counseling on inv9 in early pregnancy and adults needs to be given more attention.
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spelling pubmed-75134062020-10-01 Analysis of the clinical features of pericentric inversion of chromosome 9 Xie, Xiaolei Li, Fuguang Tan, Weihe Tang, Jiang J Int Med Res Retrospective Clinical Research Report OBJECTIVE: The pericentric inversion of chromosome 9 (inv9) is one of the most common structural balanced chromosomal variations, and it is considered to be a normal population variant. The aim of this study was to re-evaluate the clinical impact of patients with inv9. METHODS: We studied the karyotypes from 4853 patients at a single center and retrospectively reviewed their clinical data. RESULTS: There were 67 inv9 patients among 2988 adults, and 62 of them showed different clinical features, including male and female infertility, oligoasthenozoospermia, and azoospermia. Thirty-one cases of inv9 were found in 1865 fetuses, including two cases in chorionic villus (6.90%) and 29 in amniotic fluid (1.67%), but there were no cases in umbilical cord blood. The rates of fetal phenotype abnormal and adverse pregnancy outcome with inv9 in the chorionic villus were 100.00% (2/2), while only 17.24% (5/29) in the amniotic fluid showed abnormalities, among which 60.00% (3/5) had adverse pregnancy outcomes. CONCLUSIONS: Although there is no clear evidence that inv9 is pathogenic, the genetic counseling on inv9 in early pregnancy and adults needs to be given more attention. SAGE Publications 2020-09-22 /pmc/articles/PMC7513406/ /pubmed/32957812 http://dx.doi.org/10.1177/0300060520957820 Text en © The Author(s) 2020 https://creativecommons.org/licenses/by-nc/4.0/ Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Retrospective Clinical Research Report
Xie, Xiaolei
Li, Fuguang
Tan, Weihe
Tang, Jiang
Analysis of the clinical features of pericentric inversion of chromosome 9
title Analysis of the clinical features of pericentric inversion of chromosome 9
title_full Analysis of the clinical features of pericentric inversion of chromosome 9
title_fullStr Analysis of the clinical features of pericentric inversion of chromosome 9
title_full_unstemmed Analysis of the clinical features of pericentric inversion of chromosome 9
title_short Analysis of the clinical features of pericentric inversion of chromosome 9
title_sort analysis of the clinical features of pericentric inversion of chromosome 9
topic Retrospective Clinical Research Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7513406/
https://www.ncbi.nlm.nih.gov/pubmed/32957812
http://dx.doi.org/10.1177/0300060520957820
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AT tanweihe analysisoftheclinicalfeaturesofpericentricinversionofchromosome9
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