Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report

Deletion 9p syndrome is a rare chromosomal abnormality with a wide spectrum of manifestations such as craniofacial dysmorphism, congenital anomalies, and psychomotor delay. We report a case of a seven-year-old girl with simultaneous 9p24.3 deletion and 8p23.3 duplication detected using multiplex lig...

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Detalles Bibliográficos
Autores principales: Saberi, Mozhgan, Mahjoub, Frouzandehi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shiraz University of Medical Sciences 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9445862/
https://www.ncbi.nlm.nih.gov/pubmed/36117579
http://dx.doi.org/10.30476/IJMS.2021.89353.2039

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9445862/
https://www.ncbi.nlm.nih.gov/pubmed/36117579
http://dx.doi.org/10.30476/IJMS.2021.89353.2039

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