Application of array comparative genomic hybridization in clinical diagnostics of intellectual disability/developmental delay in children

Simple item page
dc.contributor.authorUppal, Komalen_US
dc.contributor.authorRana, Lakshayen_US
dc.contributor.authorPolipalli, Sunil Kumaren_US
dc.contributor.authorKumar, Someshen_US
dc.contributor.authorJindal, Ankuren_US
dc.contributor.authorKapoor, Seemaen_US
dc.date.accessioned2024-09-24T07:15:59Z
dc.date.available2024-09-24T07:15:59Z
dc.date.issued2023-12
dc.description.abstractBackground: This study was designed to analyze and evaluate the potential pathogenic genomic imbalance in children with unexplained intellectual disability (ID) and/or developmental delay (DD) and its association with phenotypes, and to investigate the value of array-based comparative genomic hybridization (array-CGH).Methods: A total of 72 Children with ID/DD were evaluated by array-CGH for detection of genomic copy number variations (CNVs).Results: The results of the array-CGH revealed that 10(14%) of the 72 patients had pathogenic CNVs, in that six cases had pathogenic CNV in a single chromosome, 2 cases had multiple microdeletions and 2 cases had combined microdeletion and microduplication, 2 cases had pathogenic CNVs in chromosome 1p36 and Xq28 region. One case had variation of unknown significance in chromosome region 15q11.2. Large bands of copy neutral loss of heterozygosity were detected in 2 cases comprising more than 10% of genome.Conclusions: Array-CGH being a high-throughput and rapid tool, allows for the etiological diagnosis in some of the children with unexplained ID/DD.en_US
dc.identifier.affiliationsDivision of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College (Delhi University), Delhi, Indiaen_US
dc.identifier.affiliationsDivision of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College (Delhi University), Delhi, Indiaen_US
dc.identifier.affiliationsDivision of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College (Delhi University), Delhi, Indiaen_US
dc.identifier.affiliationsDivision of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College (Delhi University), Delhi, Indiaen_US
dc.identifier.affiliationsDivision of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College (Delhi University), Delhi, Indiaen_US
dc.identifier.affiliationsDivision of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College (Delhi University), Delhi, Indiaen_US
dc.identifier.citationUppal Komal, Rana Lakshay, Polipalli Sunil Kumar, Kumar Somesh, Jindal Ankur, Kapoor Seema . Application of array comparative genomic hybridization in clinical diagnostics of intellectual disability/developmental delay in children . International Journal of Contemporary Pediatrics. 2023 Dec; 10(12): 1845-1853en_US
dc.identifier.issn2349-3283
dc.identifier.issn2349-3291
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/228461
dc.languageenen_US
dc.publisherMedip Academyen_US
dc.relation.issuenumber12en_US
dc.relation.volume10en_US
dc.source.urihttps://doi.org/10.18203/2349-3291.ijcp20233608en_US
dc.subjectComparative genomic hybridizationen_US
dc.subjectArray-CGHen_US
dc.subjectIntellectual disabilityen_US
dc.titleApplication of array comparative genomic hybridization in clinical diagnostics of intellectual disability/developmental delay in childrenen_US
dc.typeJournal Articleen_US
Files
Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
ijcp2023v10n12p1845.pdf
Size:
289.6 KB
Format:
Adobe Portable Document Format
Download
Collections
International Journal of Contemporary Pediatrics