Cargando…
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity interstitial hemizygous deletions on chromosome 15q13. Using high-density microarrays, we characterized these deletions a...
Autores principales: | Alsagob, Maysoon, Salih, Mustafa A., Hamad, Muddathir H. A., Al-Yafee, Yusra, Al-Zahrani, Jawaher, Al-Bakheet, Albandary, Nester, Michael, Sakati, Nadia, Wakil, Salma M., AlOdaib, Ali, Colak, Dilek, Kaya, Namik |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525444/ https://www.ncbi.nlm.nih.gov/pubmed/31131027 http://dx.doi.org/10.1186/s13039-019-0432-6 |
Ejemplares similares
-
Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects
por: Al-Zahrani, Jawaher, et al.
Publicado: (2011) -
Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature
por: AlQudairy, Hanan, et al.
Publicado: (2023) -
Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)
por: Seidahmed, Mohammed Z., et al.
Publicado: (2020) -
The psychiatric phenotype of 15q11.2-q13.3 duplications
por: Budisteanu, M., et al.
Publicado: (2021) -
A case of 15q11‐q13 duplication syndrome and literature review
por: Fu, Zhuo, et al.
Publicado: (2021)