A new small supernumerary marker chromosome involving 14pter → q12 in a child with severe neurodevelopmental retardation: Case report and literature review |
| |
Authors: | Manlong Qi Yanyan Zhao Yueping Wang Tingting Li |
| |
Institution: | 1. Department of Clinical Genetics, the Affiliated Shengjing Hospital, China Medical University, Shenyang, Liaoning Province 110004, China;2. Department of Medical Genetics, School of Basic Medicine, China Medical University, Shenyang, Liaoning Province 110001, China |
| |
Abstract: | 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 associated clinical phenomena, and we also propose that the involved chromosomal regions may contain dosage-sensitive genes which are important for the development. |
| |
Keywords: | sSMC small supernumerary marker chromosome MRI magnetic resonance imaging CNV copy number variation FISH fluorescent in situ hybridization FOXG1 forkhead box G1 NOVA1 neuro-oncological ventral antigen 1 G2E3 G2/M-phase specific E3 ubiquitin protein ligase SUPT16H suppressor of Ty 16 homolog (S cerevisiae) CHD8 chromodomain helicase DNA binding protein 8 TOX4 TOX high mobility group box family member 4 PRKD1 protein kinase D1 COCH coagulation factor C homolog cochlin (Limulus polyphemus) |
本文献已被 ScienceDirect 等数据库收录! |
|