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  1. Fulltext Supernumerary derivative (22) syndrome resulting from a maternal balanced translocation
    Afroze B, Ngu LH, Roziana A, Aminah M, Noor Shahizan A
    Singapore Med J, 2008 Dec;49(12):e372-4.
    PMID: 19122939
    Supernumerary derivative (22) syndrome is one of the rare genomic syndromes. It is characterised by severe mental retardation, microcephaly, failure to thrive, ear anomalies, preauricular tags or sinus, cleft palate or high arch palate, microganathia, renal anomalies, congenital cardiac defects and genital abnormalities in males. In 99 percent of the cases, one of the parents is a balanced carrier of a translocation between chromosome 11 and chromosome 22. We report the first known case, a female neonate, of supernumerary derivative (22) syndrome from Malaysia.
    Matched MeSH terms: Chromosomes, Human, Pair 11/genetics*
  2. Fulltext High cell density and latent membrane protein 1 expression induce cleavage of the mixed lineage leukemia gene at 11q23 in nasopharyngeal carcinoma cell line
    Yee PH, Sim SP
    J Biomed Sci, 2010;17:77.
    PMID: 20858288 DOI: 10.1186/1423-0127-17-77
    Nasopharyngeal carcinoma (NPC) is commonly found in Southern China and South East Asia. Epstein-Barr virus (EBV) infection is well associated with NPC and has been implicated in its pathogenesis. Moreover, various chromosome rearrangements were reported in NPC. However, the underlying mechanism of chromosome rearrangement remains unclear. Furthermore, the relationship between EBV and chromosome rearrangement with respect to the pathogenesis of NPC has not been established. We hypothesize that during virus- or stress-induced apoptosis, chromosomes are initially cleaved at the base of the chromatin loop domain structure. Upon DNA repair, cell may survive with rearranged chromosomes.
    Matched MeSH terms: Chromosomes, Human, Pair 11/genetics*
  3. Fulltext A Genome Wide Study of Copy Number Variation Associated with Nasopharyngeal Carcinoma in Malaysian Chinese Identifies CNVs at 11q14.3 and 6p21.3 as Candidate Loci
    Low JS, Chin YM, Mushiroda T, Kubo M, Govindasamy GK, Pua KC, et al.
    PLoS One, 2016;11(1):e0145774.
    PMID: 26730743 DOI: 10.1371/journal.pone.0145774
    BACKGROUND: Nasopharyngeal carcinoma (NPC) is a neoplasm of the epithelial lining of the nasopharynx. Despite various reports linking genomic variants to NPC predisposition, very few reports were done on copy number variations (CNV). CNV is an inherent structural variation that has been found to be involved in cancer predisposition.

    METHODS: A discovery cohort of Malaysian Chinese descent (NPC patients, n = 140; Healthy controls, n = 256) were genotyped using Illumina® HumanOmniExpress BeadChip. PennCNV and cnvPartition calling algorithms were applied for CNV calling. Taqman CNV assays and digital PCR were used to validate CNV calls and replicate candidate copy number variant region (CNVR) associations in a follow-up Malaysian Chinese (NPC cases, n = 465; and Healthy controls, n = 677) and Malay cohort (NPC cases, n = 114; Healthy controls, n = 124).

    RESULTS: Six putative CNVRs overlapping GRM5, MICA/HCP5/HCG26, LILRB3/LILRA6, DPY19L2, RNase3/RNase2 and GOLPH3 genes were jointly identified by PennCNV and cnvPartition. CNVs overlapping GRM5 and MICA/HCP5/HCG26 were subjected to further validation by Taqman CNV assays and digital PCR. Combined analysis in Malaysian Chinese cohort revealed a strong association at CNVR on chromosome 11q14.3 (Pcombined = 1.54x10-5; odds ratio (OR) = 7.27; 95% CI = 2.96-17.88) overlapping GRM5 and a suggestive association at CNVR on chromosome 6p21.3 (Pcombined = 1.29x10-3; OR = 4.21; 95% CI = 1.75-10.11) overlapping MICA/HCP5/HCG26 genes.

    CONCLUSION: Our results demonstrated the association of CNVs towards NPC susceptibility, implicating a possible role of CNVs in NPC development.

    Matched MeSH terms: Chromosomes, Human, Pair 11/genetics*
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