Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation

A 7-month-old male presented with developmental delay and multiple congenital anomalies. He was found to have partial trisomy for the distal segment of chromosome 15 (q22-qter). Chromosome analysis of the mother showed a reciprocal balanced translocation between long arms of chromosome 6 and 15, t (...

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Detalles Bibliográficos
Autores principales: Singla, Shilpy, Mandal, Kausik, Sharma, Suvasini, Chhapola, Viswas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166849/
https://www.ncbi.nlm.nih.gov/pubmed/25250082
http://dx.doi.org/10.4103/1817-1745.139354
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author Singla, Shilpy
Mandal, Kausik
Sharma, Suvasini
Chhapola, Viswas
author_facet Singla, Shilpy
Mandal, Kausik
Sharma, Suvasini
Chhapola, Viswas
author_sort Singla, Shilpy
collection PubMed
description A 7-month-old male presented with developmental delay and multiple congenital anomalies. He was found to have partial trisomy for the distal segment of chromosome 15 (q22-qter). Chromosome analysis of the mother showed a reciprocal balanced translocation between long arms of chromosome 6 and 15, t (6;15)(q26;q22).
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spelling pubmed-41668492014-09-23 Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation Singla, Shilpy Mandal, Kausik Sharma, Suvasini Chhapola, Viswas J Pediatr Neurosci Case Report A 7-month-old male presented with developmental delay and multiple congenital anomalies. He was found to have partial trisomy for the distal segment of chromosome 15 (q22-qter). Chromosome analysis of the mother showed a reciprocal balanced translocation between long arms of chromosome 6 and 15, t (6;15)(q26;q22). Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4166849/ /pubmed/25250082 http://dx.doi.org/10.4103/1817-1745.139354 Text en Copyright: © Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Singla, Shilpy
Mandal, Kausik
Sharma, Suvasini
Chhapola, Viswas
Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation
title Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation
title_full Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation
title_fullStr Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation
title_full_unstemmed Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation
title_short Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation
title_sort partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166849/
https://www.ncbi.nlm.nih.gov/pubmed/25250082
http://dx.doi.org/10.4103/1817-1745.139354
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AT sharmasuvasini partialtrisomyofchromosome15qandpartialmonopsonyof6qduetomaternalbalancedtranslocation
AT chhapolaviswas partialtrisomyofchromosome15qandpartialmonopsonyof6qduetomaternalbalancedtranslocation

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