A new small supernumerary marker chromosome involving 14pter -> q12 in a child with severe neurodevelopmental retardation: Case report and literature review

作者：Qi, Manlong^*; Zhao, Yanyan; Wang, Yueping; Li, Tingting

来源：Gene, 2013, 531(2): 457-461.

DOI：10.1016/j.gene.2013.08.084

• Chromosome 14 marker
• Karyotype-phenotype
• Mental retardation
• Supernumerary marker chromosome

Unstable, gene-rich pericentric regions have been associated with various structural aberrations including small supernumerary marker chromosomes (sSMCs). We hereby report on a new sSMC derived from chromosome 14, generating trisomy 14pter -> q12 in a child with severe neurodevelopmental delay. The patient featured facial dysmorphism, generalized hypotonia, transverse palmar creases, structural brain abnormality, and severe cognitive and motor impairment Literature review indicated this to be a unique case of sSMC 14 which was only composed of pter -> q12, and the phenotype secondary to duplications of the similar region partially overlaps with the phenotype reported in this study. The genetic analysis on our case helps" to better delineate karyotype-phenotype correlations between proximal trisomy 14 and associa

• 出版日期2013-12-1
• 单位中国医科大学