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

Authors
Lee, CG; Park, SJ; Yun, JN; Yim, SY; Sohn, YB
Citation
Journal of Korean medical science, 27(12):1586-1590, 2012
Journal Title
Journal of Korean medical science
ISSN
1011-89341598-6357
Abstract
Deletion 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.
DOI
10.3346/jkms.2012.27.12.1586
PMID
23255863
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
AJOU Authors
임, 신영손, 영배
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