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A Child with Partial Trisomy 4 (q26 – qterminal) Resulting from Paternally Inherited Translocation (4:18) Associated with Multiple Congenital Anomalies and Death

Parental balanced reciprocal translocations can result in partial aneuploidy in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and cytogenetic characterization in a 9-day-old male child with partial trisomy of chromosome 4. Karyotyping of t...

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Autores principales: Chakraborty, Abhik, Panda, Santosh Kumar, Mohakud, Nirmal Kumar, Roy, Debarshi, Padhi, Swatishree, Koh, Shu Wen, Hande, Manoor Prakash, Banerjee, Birendranath
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540766/
https://www.ncbi.nlm.nih.gov/pubmed/31160964
http://dx.doi.org/10.4103/genint.genint_4_18
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author Chakraborty, Abhik
Panda, Santosh Kumar
Mohakud, Nirmal Kumar
Roy, Debarshi
Padhi, Swatishree
Koh, Shu Wen
Hande, Manoor Prakash
Banerjee, Birendranath
author_facet Chakraborty, Abhik
Panda, Santosh Kumar
Mohakud, Nirmal Kumar
Roy, Debarshi
Padhi, Swatishree
Koh, Shu Wen
Hande, Manoor Prakash
Banerjee, Birendranath
author_sort Chakraborty, Abhik
collection PubMed
description Parental balanced reciprocal translocations can result in partial aneuploidy in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and cytogenetic characterization in a 9-day-old male child with partial trisomy of chromosome 4. Karyotyping of the proband and parents was performed along with multicolor fluorescence in situ hybridization (mFISH) of paternal chromosomes. Conventional cytogenetic analysis by karyotyping showed 47,XY,der(18),t(4;18)(q26;q22),+4 in proband, and the paternal karyotype was found as 47,XY,der(18),t(4;18)(q26;q22). mFISH analysis on paternal chromosomal preparations confirmed both region and origin of the balanced translocation. In this study, karyotyping helped us to identify both numerical and structural anomalies in the proband, and mFISH helped us to confirm our cytogenetic findings. Therefore, cytogenetic screening of both partners is recommended before pregnancy to rule out or confirm the presence of any numerical or structural anomaly in one, both, or none of the partners.
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spelling pubmed-65407662019-06-03 A Child with Partial Trisomy 4 (q26 – qterminal) Resulting from Paternally Inherited Translocation (4:18) Associated with Multiple Congenital Anomalies and Death Chakraborty, Abhik Panda, Santosh Kumar Mohakud, Nirmal Kumar Roy, Debarshi Padhi, Swatishree Koh, Shu Wen Hande, Manoor Prakash Banerjee, Birendranath Genome Integr Case Report Parental balanced reciprocal translocations can result in partial aneuploidy in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and cytogenetic characterization in a 9-day-old male child with partial trisomy of chromosome 4. Karyotyping of the proband and parents was performed along with multicolor fluorescence in situ hybridization (mFISH) of paternal chromosomes. Conventional cytogenetic analysis by karyotyping showed 47,XY,der(18),t(4;18)(q26;q22),+4 in proband, and the paternal karyotype was found as 47,XY,der(18),t(4;18)(q26;q22). mFISH analysis on paternal chromosomal preparations confirmed both region and origin of the balanced translocation. In this study, karyotyping helped us to identify both numerical and structural anomalies in the proband, and mFISH helped us to confirm our cytogenetic findings. Therefore, cytogenetic screening of both partners is recommended before pregnancy to rule out or confirm the presence of any numerical or structural anomaly in one, both, or none of the partners. Wolters Kluwer - Medknow 2019-05-24 /pmc/articles/PMC6540766/ /pubmed/31160964 http://dx.doi.org/10.4103/genint.genint_4_18 Text en Copyright: © 2019 Genome Integrity http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Chakraborty, Abhik
Panda, Santosh Kumar
Mohakud, Nirmal Kumar
Roy, Debarshi
Padhi, Swatishree
Koh, Shu Wen
Hande, Manoor Prakash
Banerjee, Birendranath
A Child with Partial Trisomy 4 (q26 – qterminal) Resulting from Paternally Inherited Translocation (4:18) Associated with Multiple Congenital Anomalies and Death
title A Child with Partial Trisomy 4 (q26 – qterminal) Resulting from Paternally Inherited Translocation (4:18) Associated with Multiple Congenital Anomalies and Death
title_full A Child with Partial Trisomy 4 (q26 – qterminal) Resulting from Paternally Inherited Translocation (4:18) Associated with Multiple Congenital Anomalies and Death
title_fullStr A Child with Partial Trisomy 4 (q26 – qterminal) Resulting from Paternally Inherited Translocation (4:18) Associated with Multiple Congenital Anomalies and Death
title_full_unstemmed A Child with Partial Trisomy 4 (q26 – qterminal) Resulting from Paternally Inherited Translocation (4:18) Associated with Multiple Congenital Anomalies and Death
title_short A Child with Partial Trisomy 4 (q26 – qterminal) Resulting from Paternally Inherited Translocation (4:18) Associated with Multiple Congenital Anomalies and Death
title_sort child with partial trisomy 4 (q26 – qterminal) resulting from paternally inherited translocation (4:18) associated with multiple congenital anomalies and death
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540766/
https://www.ncbi.nlm.nih.gov/pubmed/31160964
http://dx.doi.org/10.4103/genint.genint_4_18
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