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Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.

DC Field Value Language
dc.contributor.authorLee, CG-
dc.contributor.authorPark, SJ-
dc.contributor.authorYun, JN-
dc.contributor.authorKo, JM-
dc.contributor.authorKim, HJ-
dc.contributor.authorYim, SY-
dc.contributor.authorSohn, YB-
dc.date.accessioned2014-06-02T06:16:22Z-
dc.date.available2014-06-02T06:16:22Z-
dc.date.issued2013-
dc.identifier.issn0513-5796-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/10358-
dc.description.abstractPURPOSE: This study analyzed and evaluated the demographic, clinical, and cytogenetic data [G-banded karyotyping and array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability at a single Korean institution.



MATERIALS AND METHODS: We collected clinical and cytogenetic data based on retrospective charts at Ajou University Medical Center, Suwon, Korea from April 2008 to March 2012.



RESULTS: A total of 190 patients were identified. Mean age was 5.1±1.87 years. Array CGH yielded abnormal results in 26 of 190 patients (13.7%). Copy number losses were about two-fold more frequent than gains. A total of 61.5% of all patients had copy number losses. The most common deletion disorders included 22q11.2 deletion syndrome, 15q11.2q12 deletion and 18q deletion syndrome. Copy number gains were identified in 34.6% of patients, and common diseases among these included Potocki-Lupski syndrome, 15q11-13 duplication syndrome and duplication 22q. Abnormal karyotype with normal array CGH results was exhibited in 2.6% of patients; theses included balanced translocation (n=2), inversion (n=2) and low-level mosaicism (n=1). Facial abnormalities (p<0.001) and failure to thrive were (p<0.001) also more frequent in the group of patients with abnormal CGH findings.



CONCLUSION: Array CGH is a useful diagnostic tool in clinical settings in patients with developmental delay or intellectual disability combined with facial abnormalities or failure to thrive.
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dc.language.isoen-
dc.titleArray-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.-
dc.typeArticle-
dc.identifier.pmid24142652-
dc.identifier.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809862/-
dc.subject.keywordArray CGH-
dc.subject.keywordcopy number variations-
dc.subject.keyworddevelopmental delay-
dc.subject.keywordintellectual disability-
dc.contributor.affiliatedAuthor김, 현주-
dc.contributor.affiliatedAuthor임, 신영-
dc.contributor.affiliatedAuthor손, 영배-
dc.type.localJournal Papers-
dc.identifier.doi10.3349/ymj.2013.54.6.1463-
dc.citation.titleYonsei medical journal-
dc.citation.volume54-
dc.citation.number6-
dc.citation.date2013-
dc.citation.startPage1463-
dc.citation.endPage1470-
dc.identifier.bibliographicCitationYonsei medical journal, 54(6). : 1463-1470, 2013-
dc.identifier.eissn1976-2437-
dc.relation.journalidJ005135796-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
Journal Papers > School of Medicine / Graduate School of Medicine > Physical Medicine & Rehabilitation
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