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J Korean Med Sci. 2012 Dec;27(12):1586-90. doi: 10.3346/jkms.2012.27.12.1586. Epub 2012 Dec 7.

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

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  • 1Department of Pediatrics, Eulji General Hospital, Seoul, Korea.

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.

KEYWORDS:

17p11.2; Array-CGH; Deletion; Duplication; Potocki-Lupski Syndrome (PTLS); Smith-Magenis Syndrome (SMS)

PMID:
23255863
[PubMed - indexed for MEDLINE]
PMCID:
PMC3524443
Free PMC Article
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