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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences
2023
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Materias: | |
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 |
Sumario: | 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. |
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