Cargando…
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...
Autores principales: | Saberi, Mozhgan, Mahjoub, Frouzandehi |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Shiraz University of Medical Sciences
2022
|
Materias: | |
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 |
Ejemplares similares
-
Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes
por: D’Angelo, Carla S, et al.
Publicado: (2014) -
Deletion/duplication mutation screening of TP53 gene in patients with transitional cell carcinoma of urinary bladder using multiplex ligation‐dependent probe amplification
por: Bazrafshani, Mohammad Reza R., et al.
Publicado: (2015) -
Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification
por: Furtado, Larissa V, et al.
Publicado: (2011) -
Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis
por: Sukalo, Maja, et al.
Publicado: (2017) -
Assessment of p53 and ATM functionality in chronic lymphocytic leukemia by multiplex ligation-dependent probe amplification
por: te Raa, G D, et al.
Publicado: (2015)