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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Authors | Cha Gon Lee, Sang-Jin Park, Jun-No Yun, Shin-Young Yim, Young Bae Sohn |
Journal | Journal of Korean medical science
(J Korean Med Sci)
Vol. 27
Issue 12
Pg. 1586-90
(Dec 2012)
ISSN: 1598-6357 [Electronic] Korea (South) |
PMID | 23255863
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- RAI1 protein, human
- SREBF1 protein, human
- Sterol Regulatory Element Binding Protein 1
- Trans-Activators
- Transcription Factors
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Topics |
- Abnormalities, Multiple
- Adolescent
- Asian People
(genetics)
- Child, Preschool
- Chromosome Disorders
- Chromosome Duplication
- 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)
- Trans-Activators
- Transcription Factors
(genetics)
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