Please use this identifier to cite or link to this item: https://doi.org/10.1186/1755-8166-7-32
Title: Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern
Authors: Tan, E.-S 
Yong, M.-H
Lim, E.C.P
Li, Z.-H
Brett, M.S.Y
Tan, E.-C 
Keywords: polypeptide
small nuclear ribonucleoprotein
array comparative genomic hybridization
article
autism
case report
cell population
chromosome 15q
chromosome 15q11
chromosome 15q12
chromosome 15q13
chromosome analysis
comparative genomic hybridization
developmental disorder
DNA microarray
female
fluorescence in situ hybridization
gene
gene dosage
genetic disorder
human
human cell
male
marker chromosome
methylation
muscle hypotonia
neurologic disease
phenotype
priority journal
Issue Date: 2014
Citation: Tan, E.-S, Yong, M.-H, Lim, E.C.P, Li, Z.-H, Brett, M.S.Y, Tan, E.-C (2014). Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern. Molecular Cytogenetics 7 (1) : 32. ScholarBank@NUS Repository. https://doi.org/10.1186/1755-8166-7-32
Rights: Attribution 4.0 International
Abstract: Background: The 15q11-q13 region contains many low copy repeats and is well known for its genomic instability. Several syndromes are associated with genomic imbalance or copy-number-neutral uniparental disomy. We report on two patients: Patient 1 is a boy with developmental delay and autism; and Patient 2 is a girl with developmental delay, hypotonia and dysmorphism. We performed analyses to delineate their dosage in the 15q region, determine whether the patients' dosage correlates with phenotypic severity, and whether genes in the amplified regions are significantly associated with identified functional networks. Results: For the proximal region of 15q, molecular cytogenetic analysis with Agilent oligonucleotide array showed a copy number of 3 for Patient 1 and a copy number of 4 for Patient 2. Fluorescent in situ hybridization analysis of Patient 2 showed two different populations of cells with different marker chromosomes. Methylation analysis of the amplified region showed that the extra copies of small nuclear ribonucleoprotein polypeptide N gene were of maternal origin. Phenotypic severity did not correlate with the size and dosage of 15q, or whether the amplification is interstitial or in the form of a supernumerary marker. Pathway analysis showed that in Patient 2, the main functional networks that are affected by the genes from the duplicated/triplicated regions are developmental disorder, neurological disease and hereditary disease. Conclusions: The 15q11-q13 gains that were found in both patients could explain their phenotypic presentations. This report expands the cohort of patients for which 15q11-q13 duplications are molecularly characterized. © 2014 Tan et al.; licensee BioMed Central Ltd.
Source Title: Molecular Cytogenetics
URI: https://scholarbank.nus.edu.sg/handle/10635/181756
ISSN: 17558166
DOI: 10.1186/1755-8166-7-32
Rights: Attribution 4.0 International
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