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Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome

DC Field Value Language
dc.contributor.authorLee, CG-
dc.contributor.authorPark, SJ-
dc.contributor.authorYun, JN-
dc.contributor.authorYim, SY-
dc.contributor.authorSohn, YB-
dc.date.accessioned2013-05-03T06:26:35Z-
dc.date.available2013-05-03T06:26:35Z-
dc.date.issued2012-
dc.identifier.issn1011-8934-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/8252-
dc.description.abstractDeletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently been recognized as a microduplication syndrome that is a reciprocal disease of Smith-Magenis syndrome. In this paper, we report on the clinical and cytogenetic features of two Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. Patient 1 (Smith-Magenis syndrome) was a 2.9-yr-old boy who showed mild dysmorphic features, aggressive behavioral problems, and developmental delay. Patient 2 (Potocki-Lupski syndrome), a 17-yr-old boy, had only intellectual disabilities and language developmental delay. We used array comparative genomic hybridization (array CGH) and found a 2.6 Mb-sized deletion and a reciprocal 2.1 Mb-sized duplication involving the 17p11.2. These regions overlapped in a 2.1 Mb size containing 11 common genes, including RAI1 and SREBF.-
dc.language.isoen-
dc.titleReciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome-
dc.typeArticle-
dc.identifier.pmid23255863-
dc.identifier.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3524443/-
dc.contributor.affiliatedAuthor임, 신영-
dc.contributor.affiliatedAuthor손, 영배-
dc.type.localJournal Papers-
dc.identifier.doi10.3346/jkms.2012.27.12.1586-
dc.citation.titleJournal of Korean medical science-
dc.citation.volume27-
dc.citation.number12-
dc.citation.date2012-
dc.citation.startPage1586-
dc.citation.endPage1590-
dc.identifier.bibliographicCitationJournal of Korean medical science, 27(12):1586-1590, 2012-
dc.identifier.eissn1598-6357-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Physical Medicine & Rehabilitation
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
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