@article {580,
	title = {Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.},
	journal = {J Hum Genet},
	volume = {55},
	year = {2010},
	month = {2010 Nov},
	pages = {761-3},
	abstract = {Phenotypic variation in CHARGE syndrome remains unexplained. A subcategory of CHARGE patients show overlapping phenotypic characteristics with DiGeorge syndrome (thymic hypo/aplasia, hypocalcemia, T-cell immunodeficiency). Very few have been tested or reported to carry a mutation of the CHD7 (chromodomain helicase DNA-binding domain) gene detected in two-thirds of CHARGE patients. In an attempt to explore the genetic background of a severe CHARGE/DiGeorge phenotype, we performed comparative genomic array hybridization in an infant carrier of a CHD7 mutation. The high-resolution comparative genomic array hybridization revealed interesting findings, including a deletion distal to the DiGeorge region and disruptions in other chromosomal regions of genes implicated in immunological and other functions possibly contributing to the patient{\textquoteright}s severe phenotype and early death.},
	keywords = {CHARGE Syndrome, Comparative Genomic Hybridization, DiGeorge Syndrome, DNA Helicases, DNA-Binding Proteins, Fatal Outcome, Humans, Infant, Male, Mutation, Phenotype, Proteins, Sequence Deletion, Severe Combined Immunodeficiency},
	issn = {1435-232X},
	doi = {10.1038/jhg.2010.95},
	author = {Kaliakatsos, Marios and Giannakopoulos, Aristeidis and Fryssira, Helena and Kanariou, Maria and Skiathitou, Anna-Venetia and Tania Siahanidou and Giannikou, Krinio and Makrythanasis, Periklis and Kanavakis, Emmanuel and Tzetis, Maria}
}
