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A novel chromosome 2q24.3‐q32.1 microdeletion in a fetus with multiple malformations

BACKGROUND: Terminal or interstitial deletion of chromosome 2q is rarely reported but clinically significant, which can result in developmental malformations and psychomotor retardation in humans. In the present study, we analyzed this deletion to comprehensively clarify the relationship between phe...

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Autores principales: Zhu, Mianmian, Wang, Yihong, Guan, Lijie, Lu, Chaosheng, Sun, Rongyue, Chen, Yuan, Shi, Jiamin, Zhu, Yanying, Wang, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9396185/
https://www.ncbi.nlm.nih.gov/pubmed/35819063
http://dx.doi.org/10.1002/jcla.24602
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author Zhu, Mianmian
Wang, Yihong
Guan, Lijie
Lu, Chaosheng
Sun, Rongyue
Chen, Yuan
Shi, Jiamin
Zhu, Yanying
Wang, Dan
author_facet Zhu, Mianmian
Wang, Yihong
Guan, Lijie
Lu, Chaosheng
Sun, Rongyue
Chen, Yuan
Shi, Jiamin
Zhu, Yanying
Wang, Dan
author_sort Zhu, Mianmian
collection PubMed
description BACKGROUND: Terminal or interstitial deletion of chromosome 2q is rarely reported but clinically significant, which can result in developmental malformations and psychomotor retardation in humans. In the present study, we analyzed this deletion to comprehensively clarify the relationship between phenotype and microdeletion region. METHODS: We collected clinical records of the fetus and summarized patient symptoms. Subsequently, genomic DNA was extracted from fetal tissue or peripheral blood collected from parents. In addition, whole‐exome sequencing (WES) and copy number variation sequencing (CNV‐seq) were performed. RESULTS: The fetus presented a previously unreported interstitial deletion of 2q24.3‐q32.1. WES and CNV‐seq revealed a de novo 18.46 Mb deletion at 2q24.3‐q32.1, a region involving 94 protein‐coding genes, including HOXD13, MAP3K20, DLX1, DLX2, SCN2A, and SCN1A. The fetus had upper and lower limb malformations, including camptodactyly and syndactyly, along with congenital cardiac defects. CONCLUSION: Herein, we report a fetus with a novel microdeletion of chromosome 2q24.3‐q32.1, likely a heterozygous pathogenic variant. Haploinsufficiency of HOXD13 might be related to limb deformity in the fetus.
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spelling pubmed-93961852022-08-24 A novel chromosome 2q24.3‐q32.1 microdeletion in a fetus with multiple malformations Zhu, Mianmian Wang, Yihong Guan, Lijie Lu, Chaosheng Sun, Rongyue Chen, Yuan Shi, Jiamin Zhu, Yanying Wang, Dan J Clin Lab Anal Research Articles BACKGROUND: Terminal or interstitial deletion of chromosome 2q is rarely reported but clinically significant, which can result in developmental malformations and psychomotor retardation in humans. In the present study, we analyzed this deletion to comprehensively clarify the relationship between phenotype and microdeletion region. METHODS: We collected clinical records of the fetus and summarized patient symptoms. Subsequently, genomic DNA was extracted from fetal tissue or peripheral blood collected from parents. In addition, whole‐exome sequencing (WES) and copy number variation sequencing (CNV‐seq) were performed. RESULTS: The fetus presented a previously unreported interstitial deletion of 2q24.3‐q32.1. WES and CNV‐seq revealed a de novo 18.46 Mb deletion at 2q24.3‐q32.1, a region involving 94 protein‐coding genes, including HOXD13, MAP3K20, DLX1, DLX2, SCN2A, and SCN1A. The fetus had upper and lower limb malformations, including camptodactyly and syndactyly, along with congenital cardiac defects. CONCLUSION: Herein, we report a fetus with a novel microdeletion of chromosome 2q24.3‐q32.1, likely a heterozygous pathogenic variant. Haploinsufficiency of HOXD13 might be related to limb deformity in the fetus. John Wiley and Sons Inc. 2022-07-12 /pmc/articles/PMC9396185/ /pubmed/35819063 http://dx.doi.org/10.1002/jcla.24602 Text en © 2022 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Articles
Zhu, Mianmian
Wang, Yihong
Guan, Lijie
Lu, Chaosheng
Sun, Rongyue
Chen, Yuan
Shi, Jiamin
Zhu, Yanying
Wang, Dan
A novel chromosome 2q24.3‐q32.1 microdeletion in a fetus with multiple malformations
title A novel chromosome 2q24.3‐q32.1 microdeletion in a fetus with multiple malformations
title_full A novel chromosome 2q24.3‐q32.1 microdeletion in a fetus with multiple malformations
title_fullStr A novel chromosome 2q24.3‐q32.1 microdeletion in a fetus with multiple malformations
title_full_unstemmed A novel chromosome 2q24.3‐q32.1 microdeletion in a fetus with multiple malformations
title_short A novel chromosome 2q24.3‐q32.1 microdeletion in a fetus with multiple malformations
title_sort novel chromosome 2q24.3‐q32.1 microdeletion in a fetus with multiple malformations
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9396185/
https://www.ncbi.nlm.nih.gov/pubmed/35819063
http://dx.doi.org/10.1002/jcla.24602
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