Neonatal Med.  2014 Nov;21(4):264-269. 10.5385/nm.2014.21.4.264.

Overgrowth Syndrome with 9q22.3 Microdeletion Detected by Microarray Comparative Genomic Hybridization

• Park YJ
• Park SB
• Kim SM
• Chae YJ
• Kim JD
• Jung CL

• KMID: 1802887
• DOI: http://doi.org/10.5385/nm.2014.21.4.264

Abstract

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.

Keyword

9q22.3 microdeletion; Overgrowth; Psychomotor delay; Microarray CGH

MeSH Terms

Chromosome Disorders
Comparative Genomic Hybridization*
Cytogenetic Analysis
Fluorescence
Genes, vif
Genome, Human
Humans
In Situ Hybridization
Infant, Newborn
Korea
Muscle Hypotonia