Cargando…
A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome
We report a 15-year-old boy with cat-eye syndrome (CES) without short stature or intellectual disorder. The boy was confirmed by cytogenetic and high-resolution chromosome microarray analysis (CMA). The G-banding karyotype confirmed the de novo of the patient. Also, the CMA result showed 1.76 Mb tet...
Autores principales: | Li, Jinjie, Zhang, Yue, Diao, Yanjun, Li, Rui, Jiang, Liqing, Zhou, Lei, Liu, Jiayun, Duan, Weixun, Yang, Liu |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7937470/ https://www.ncbi.nlm.nih.gov/pubmed/33728075 http://dx.doi.org/10.1155/2021/8824184 |
Ejemplares similares
-
A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome
por: Haltrich, Irén, et al.
Publicado: (2014) -
Hypogonadotropic hypogonadism associated with another small supernumerary marker chromosome (sSMC) derived from chromosome 22, a case report
por: Abdullah,, et al.
Publicado: (2021) -
Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them
por: Liehr, Thomas, et al.
Publicado: (2008) -
Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC)
por: Xing, Huan-xia, et al.
Publicado: (2021) -
Characterization of prenatally detected small Supernumerary Marker Chromosomes (sSMC) by molecular cytogenetic technique: FISH
por: Patel, Bhumi, et al.
Publicado: (2014)