title: Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.
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.
authors.affiliation: Department of Pediatrics, Eulji General Hospital, Seoul, Korea.
authors.forename: Cha Gon
authors.initials: CG
authors.lastname: Lee
authors.forename: Sang-Jin
authors.initials: SJ
authors.lastname: Park
authors.forename: Jun-No
authors.initials: JN
authors.lastname: Yun
authors.forename: Shin-Young
authors.initials: SY
authors.lastname: Yim
authors.forename: Young Bae
authors.initials: YB
authors.lastname: Sohn
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D025063:Chromosome Disorders; D058674:Chromosome Duplication; D002886:Chromosomes, Human, Pair 17; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000209:etiology / Q000235:genetics; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics; D007621:Karyotyping; D008297:Male; D058496:Smith-Magenis Syndrome / Q000175:diagnosis / Q000235:genetics*; D051780:Sterol Regulatory Element Binding Protein 1 / Q000235:genetics; D015534:Trans-Activators; D014157:Transcription Factors / Q000235:genetics
chemical_list: C431552:RAI1 protein, human; C497387:SREBF1 protein, human; D051780:Sterol Regulatory Element Binding Protein 1; D015534:Trans-Activators; D014157:Transcription Factors