Cargando…
AB183. Clinical and cytogenetic characterization of a boy with a de novo pure partial trisomy 16q24.1-24.3 and complex chromosome rearrangement
BACKGROUND: Partial trisomy 16q is a rare syndrome with a wide range of manifestations. We here reported a boy patient with an inherited balanced complex chromosome rearrangement (CCR) involving chromosomes 1, 5, 12 and 13, and a de novo pure partial trisomy 16q24.1-24.3. METHODS: We performed G-ban...
Autores principales: | Zhou, Yang, Yao, Qi, Cui, Ying-Xia, Yao, Bing, Fan, Kai, Xia, Xin-Yi, Hu, Yu-An, Li, Xiao-Jun |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4708381/ http://dx.doi.org/10.3978/j.issn.2223-4683.2014.s183 |
Ejemplares similares
-
Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion
por: Tassano, Elisa, et al.
Publicado: (2014) -
Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects
por: Lin, Shaobin, et al.
Publicado: (2021) -
Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1
por: Ochando, Isabel, et al.
Publicado: (2018) -
4277 Functional consequences of the juvenile idiopathic arthritis risk variant at 1q24.3
por: Moncrieffe, Halima, et al.
Publicado: (2020) -
A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features
por: Palumbo, Orazio, et al.
Publicado: (2020)