Cargando…
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: | Hamza, Nishath, Al-Araimi, Musallam, Al Salmani, Kamla, Al Obeidani, Salwa |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences
2023
|
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 |
Ejemplares similares
-
A first case report of hypohidrotic ectodermal dysplasia from Oman
por: Al‐Araimi, Musallam, et al.
Publicado: (2020) -
Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome
por: Pignata, Laura, et al.
Publicado: (2021) -
Rare NF1 microdeletion syndrome in an Omani patient
por: Al‐Araimi, Musallam, et al.
Publicado: (2018) -
Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients
por: Rovina, Davide, et al.
Publicado: (2020) -
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
por: Eggermann, Katja, et al.
Publicado: (2016)