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 English
| WPRIM
| ID: wpr-60490
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Transcription Factors
/
Chromosomes, Human, Pair 17
/
Developmental Disabilities
/
Gene Deletion
/
Gene Duplication
/
Asian People
/
Sterol Regulatory Element Binding Protein 1
/
Comparative Genomic Hybridization
/
Smith-Magenis Syndrome
/
Karyotyping
Limits:
Adolescent
/
Child, preschool
/
Humans
/
Male
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2012
Type:
Article
Similar
MEDLINE
...
LILACS
LIS