Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome
Journal of Korean Medical Science
; : 1586-1590, 2012.
Article
in En
| WPRIM
| ID: wpr-60490
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Transcription Factors
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Chromosomes, Human, Pair 17
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Developmental Disabilities
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Gene Deletion
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Gene Duplication
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Asian People
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Sterol Regulatory Element Binding Protein 1
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Comparative Genomic Hybridization
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Smith-Magenis Syndrome
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Karyotyping
Limits:
Adolescent
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Child, preschool
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Humans
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Male
Language:
En
Journal:
Journal of Korean Medical Science
Year:
2012
Type:
Article