| Overgrowth Syndrome with 9q22.3 Microdeletion Detected by Microarray Comparative Genomic Hybridization. |
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Young Jin Park, Soon Bin Park, Sung Mi Kim, Yu Jin Chae, Jong Deok Kim, Chae Lim Jung |
1Department of Pediatrics, Busan St. Mary's Medical Center, Busan, Korea. ksm7090@hanmail.net
2Department of Rehabilitation Medicine, Busan St. Mary's Medical Center, Busan, Korea.
3Department of Radiology, Busan St. Mary's Medical Center, Busan, Korea.
4Seegene Medical Foundation, Seoul, Korea. |
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| Abstract |
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Microdeletion of 9q22.3 is a rare chromosomal disorder characterized by body overgrowth, facial dysmorphic features and psychomotor delay. The presence of genomic microdeletion or microdu-plication can not be identified by the conventional chromosomal analysis. Microarray comparative genomic hybridization (CGH) is a newly developed molecular cytogenetic technique that enables the identification of minute copy number variation (CNV) in the human genome.
Here, we report a case of microdeletion in the 9q22.31-q22.33 region, which included a patched homolog 1 (PTCH1) gene, as detected by CGH and confirmed by fluorescence in situ hybridization (FISH) analyses in a neonate with prenatal onset of macrosomia, dysmorphism, and muscle hypotonia. To the best of our knowledge, this is the first case report of 9q22.3 microdeletion detected by CGH in Korea. |
| Key Words:
9q22.3 microdeletion; Overgrowth; Psychomotor delay; Microarray CGH |
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