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First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome
Silver-Russell Syndrome (SRS) is a disorder that is primarily characterised by intrauterine growth restriction which may occur asymmetrically or in whole, leading to a fetus being small relative to its gestational age. We present a female infant (proband) born in 2018 at a tertiary hospital in Musca...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10292596/ https://www.ncbi.nlm.nih.gov/pubmed/37377828 http://dx.doi.org/10.18295/squmj.4.2022.033 |
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author | Hamza, Nishath Al-Araimi, Musallam Al Salmani, Kamla Al Obeidani, Salwa |
author_facet | Hamza, Nishath Al-Araimi, Musallam Al Salmani, Kamla Al Obeidani, Salwa |
author_sort | Hamza, Nishath |
collection | PubMed |
description | Silver-Russell Syndrome (SRS) is a disorder that is primarily characterised by intrauterine growth restriction which may occur asymmetrically or in whole, leading to a fetus being small relative to its gestational age. We present a female infant (proband) born in 2018 at a tertiary hospital in Muscat, Oman, with severe congenital anomalies. The proband carried a >25Mb duplication of the chromosomal 11p15-11pter locus of chromosome 13; creating a derivative chromosome 13 (der[13]) and was reported as 46,XX,der(13)add(11p15-11pter). A methylation-sensitive assay confirmed a diagnosis of SRS. Although the prognosis for SRS patients is generally good, the proband presented with a clinically severe phenotype culminating in death at the age of nine months. To the best of the authors’ knowledge, this is the first report of a derivative chromosome 13 with a duplicated 11p15 locus in a patient with SRS. |
format | Online Article Text |
id | pubmed-10292596 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-102925962023-06-27 First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome Hamza, Nishath Al-Araimi, Musallam Al Salmani, Kamla Al Obeidani, Salwa Sultan Qaboos Univ Med J Case Report Silver-Russell Syndrome (SRS) is a disorder that is primarily characterised by intrauterine growth restriction which may occur asymmetrically or in whole, leading to a fetus being small relative to its gestational age. We present a female infant (proband) born in 2018 at a tertiary hospital in Muscat, Oman, with severe congenital anomalies. The proband carried a >25Mb duplication of the chromosomal 11p15-11pter locus of chromosome 13; creating a derivative chromosome 13 (der[13]) and was reported as 46,XX,der(13)add(11p15-11pter). A methylation-sensitive assay confirmed a diagnosis of SRS. Although the prognosis for SRS patients is generally good, the proband presented with a clinically severe phenotype culminating in death at the age of nine months. To the best of the authors’ knowledge, this is the first report of a derivative chromosome 13 with a duplicated 11p15 locus in a patient with SRS. Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences 2023-05 2023-05-31 /pmc/articles/PMC10292596/ /pubmed/37377828 http://dx.doi.org/10.18295/squmj.4.2022.033 Text en © Copyright 2023, Sultan Qaboos University Medical Journal, All Rights Reserved https://creativecommons.org/licenses/by-nd/4.0/This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License. |
spellingShingle | Case Report Hamza, Nishath Al-Araimi, Musallam Al Salmani, Kamla Al Obeidani, Salwa First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome |
title | First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome |
title_full | First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome |
title_fullStr | First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome |
title_full_unstemmed | First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome |
title_short | First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome |
title_sort | first report of a derivative chromosome 13 with a duplicated 11p15 locus associated with silver-russell syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10292596/ https://www.ncbi.nlm.nih.gov/pubmed/37377828 http://dx.doi.org/10.18295/squmj.4.2022.033 |
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