Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
, 27 (12), 1586-90

Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients With Smith-Magenis Syndrome and Potocki-Lupski Syndrome

Affiliations
Case Reports

Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients With Smith-Magenis Syndrome and Potocki-Lupski Syndrome

Cha Gon Lee et al. J Korean Med Sci.

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.

Keywords: 17p11.2; Array-CGH; Deletion; Duplication; Potocki-Lupski Syndrome (PTLS); Smith-Magenis Syndrome (SMS).

Figures

Fig. 1
Fig. 1
Patient 1 showed broad forehead and downturned upper lip (A). Brachydactyly was noted (B).
Fig. 2
Fig. 2
G-banded karyotype of patient 1 revealed 46, XY, del (17) (p11.2p11.2).
Fig. 3
Fig. 3
Array CGH result of patient 1. (A) Array CGH data profile in whole chromosomes. A dot represents a bacterial artificial chromosome (BAC) clone, X-axis represents chromosome number (1-22, X, Y) and the Y-axis represents the log2 T/R signal ratio value. The table below the graph represents the average log2 T/R signal ratio value for each chromosome. Red dots represent a copy number loss (log2 T/R signal ratio value < -0.25) and deletion on chromosome 17. (B) Array CGH profile from chromosome 17 showed a deletion on the short arm, internal boundaries of the deletion in 17p11.2 (17,083,225-19,654,341), and its exact size (2.6 Mb) including RAI1 gene region.
Fig. 4
Fig. 4
Array CGH result of patient 2. (A) Array CGH data profile in whole chromosomes. Green dots represent a copy number gain (log2 T/R signal ratio value > 0.25) and duplication on chromosome 17. (B) Array CGH profile from chromosome 17 showed a duplication on the short arm of, internal boundaries of the duplication in 17p11.2 (17,575,978-19,654,341), and its exact size (2.1 Mb).
Fig. 5
Fig. 5
Schematic diagram of breakpoints for genes/regions on chromosome 17p11.2 of patient 1 and 2.

Similar articles

See all similar articles

Cited by 2 PubMed Central articles

References

    1. Morrow EM. Genomic copy number variation in disorders of cognitive development. J Am Acad Child Adolesc Psychiatry. 2010;49:1091–1104. - PMC - PubMed
    1. Shaw CJ, Bi W, Lupski JR. Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet. 2002;71:1072–1081. - PMC - PubMed
    1. Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet. 2003;73:1302–1315. - PMC - PubMed
    1. Gropman AL, Duncan WC, Smith AC. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2) Pediatr Neurol. 2006;34:337–350. - PubMed
    1. Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007;80:633–649. - PMC - PubMed

Publication types

MeSH terms

Substances

Supplementary concepts

Feedback