Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome |
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Authors: | Cha Gon Lee Sang-Jin Park Jun-No Yun Shin-Young Yim Young Bae Sohn |
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Institution: | 1Department of Pediatrics, Eulji General Hospital, Seoul, Korea.;2MG MED, Inc., Seoul, Korea.;3Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea.;4Department of Physical Medicine and Rehabilitation, Ajou University School of Medicine, Suwon, Korea. |
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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. |
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Keywords: | Array-CGH 17p11 2 Deletion Duplication Potocki-Lupski Syndrome (PTLS) Smith-Magenis Syndrome (SMS) |
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