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: 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)

Chemical References

• RAI1 protein, human
• SREBF1 protein, human
• Sterol Regulatory Element Binding Protein 1
• Trans-Activators
• Transcription Factors

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)