Overgrowth Syndrome with 9q22.3 Microdeletion Detected by Microarray Comparative Genomic Hybridization
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초록
Microdeletion of 9q22.3 is a rare chromosomal disorder characterized by bodyovergrowth, facial dysmorphic features and psychomotor delay. The presence ofgenomic microdeletion or microdu-plication can not be identified by the conventionalchromosomal analysis. Microarray comparative genomic hybridization(CGH)is a newly developed molecular cytogenetic technique that enables the identificationof minute copy number variation (CNV) in the human genome. Here, we report acase of microdeletion in the 9q22.31-q22.33 region, which includeda patchedhomolog 1 (PTCH1) gene, as detected by CGH and confirmed by fluorescencein situhybridization (FISH) analyses in a neonate with prenatal onset of macrosomia,dysmorphism, and muscle hypotonia. To the best of our knowledge, this is the firstcase report of 9q22.3 microdeletion detected by CGH in Korea.
Abstract
Microdeletion of 9q22.3 is a rare chromosomal disorder characterized by bodyovergrowth, facial dysmorphic features and psychomotor delay. The presence ofgenomic microdeletion or microdu-plication can not be identified by the conventionalchromosomal analysis. Microarray comparative genomic hybridization(CGH)is a newly developed molecular cytogenetic technique that enables the identificationof minute copy number variation (CNV) in the human genome. Here, we report acase of microdeletion in the 9q22.31-q22.33 region, which includeda patchedhomolog 1 (PTCH1) gene, as detected by CGH and confirmed by fluorescencein situhybridization (FISH) analyses in a neonate with prenatal onset of macrosomia,dysmorphism, and muscle hypotonia. To the best of our knowledge, this is the firstcase report of 9q22.3 microdeletion detected by CGH in Korea.
참고문헌 (15)
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