Overgrowth Syndrome with 9q22.3 Microdeletion Detected by Microarray Comparative Genomic Hybridization
Neonatal Medicine
;
: 264-269, 2014.
Article
in English
| WPRIM
| ID: wpr-53908
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Genome, Human
/
Genes, vif
/
In Situ Hybridization
/
Chromosome Disorders
/
Cytogenetic Analysis
/
Comparative Genomic Hybridization
/
Fluorescence
/
Korea
/
Muscle Hypotonia
Limits:
Humans
/
Infant, Newborn
Country/Region as subject:
Asia
Language:
English
Journal:
Neonatal Medicine
Year:
2014
Type:
Article
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