Cargando…
A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features
No data on interstitial microduplications of the 16q24.2q24.3 chromosome region are available in the medical literature and remain extraordinarily rare in public databases. Here, we describe a boy with a de novo 16q24.2q24.3 microduplication at the Single Nucleotide Polymorphism (SNP)-array analysis...
Autores principales: | Palumbo, Orazio, Palumbo, Pietro, Di Muro, Ester, Cinque, Luigia, Petracca, Antonio, Carella, Massimo, Castori, Marco |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349372/ https://www.ncbi.nlm.nih.gov/pubmed/32604767 http://dx.doi.org/10.3390/genes11060707 |
Ejemplares similares
-
A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report
por: Palumbo, Orazio, et al.
Publicado: (2012) -
16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature
por: Bucerzan, Simona, et al.
Publicado: (2020) -
Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype
por: Riegel, Mariluce, et al.
Publicado: (2014) -
MON-917 Carney Complex Due to a Contiguous Gene Deletion Syndrome (17q24.2-17q24.3)
por: Flippo, Chelsi L, et al.
Publicado: (2020) -
Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families
por: Firasat, Sabika, et al.
Publicado: (2008)