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- W1976581270 abstract "We present a female child with features of the CHARGE association including iris coloboma, large ventricular septum defect (VSD), external ear abnormalities, severe growth retardation and moderate mental delay. A submicroscopic deletion in chromsome 22q11 was detected by means of fluorescence in situ hybridization (FISH) using probe D0832. The clinical features in this child compromise characteristics of both the velo-cardio-facial syndrome (VCFS) and the cat-eye syndrome. This may suggest the presence of a more complex rearrangement of 22q, with a deletion-duplication." @default.
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- W1976581270 date "2008-04-23" @default.
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- W1976581270 title "Deletion in chromosome region 22q11 in a child with CHARGE association" @default.
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- W1976581270 doi "https://doi.org/10.1111/j.1399-0004.1998.tb02755.x" @default.
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