Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome.
10.3346/jkms.2012.27.12.1586
- Author:
Cha Gon LEE
1
;
Sang Jin PARK
;
Jun No YUN
;
Shin Young YIM
;
Young Bae SOHN
Author Information
1. Department of Pediatrics, Eulji General Hospital, Seoul, Korea.
- Publication Type:Case Reports
- Keywords:
Array-CGH;
17p11.2;
Deletion;
Duplication;
Potocki-Lupski Syndrome (PTLS);
Smith-Magenis Syndrome (SMS)
- MeSH:
Adolescent;
Asian Continental Ancestry Group/*genetics;
Child, Preschool;
*Chromosomes, Human, Pair 17;
Comparative Genomic Hybridization;
Developmental Disabilities/etiology/genetics;
Gene Deletion;
Gene Duplication;
Humans;
Intellectual Disability/etiology/genetics;
Karyotyping;
Male;
Smith-Magenis Syndrome/diagnosis/*genetics;
Sterol Regulatory Element Binding Protein 1/genetics;
Transcription Factors/genetics
- From:Journal of Korean Medical Science
2012;27(12):1586-1590
- CountryRepublic of Korea
- Language:English
-
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.
