Cargando…
Microduplication 3p26.3p24.3 and 4q34.3q35.2 Microdeletion Identified in a Patient with Developmental Delay Associated with Brain Malformation
Microdeletions and microduplications are involved in many of prenatal and postnatal cases of multiple congenital malformations (MCM), developmental delay/intellectual disability (DD/ID), and autism spectrum disorders (ASD). Molecular karyotyping analysis (MCA), performed by DNA microarray technology...
Autores principales: | Cardos, Georgeta, Gica, Nicolae, Gica, Corina, Panaitescu, Anca Maria, Predescu, Mariana, Peltecu, Gheorghe, Nedelea, Florina Mihaela |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9689011/ https://www.ncbi.nlm.nih.gov/pubmed/36428950 http://dx.doi.org/10.3390/diagnostics12112887 |
Ejemplares similares
-
Microduplication of 3p26.3 Implicated in Cognitive Development
por: Te Weehi, Leah, et al.
Publicado: (2014) -
A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region
por: Bouariu, Alexandra, et al.
Publicado: (2021) -
Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32)
por: Dai, Ying, et al.
Publicado: (2020) -
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
por: Ballif, Blake C, et al.
Publicado: (2008) -
Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome
por: Luisa, Sciacca Francesca, et al.
Publicado: (2018)