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Title: Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father - Clinical variability of 22q11 deletion
Authors: Devriendt, Koenraad ×
Van Hoestenberghe, R
Vanhole, Christine
Devlieger, Hugo
Gewillig, Marc
Moerman, Philippe
Van den Berghe, Herman
Fryns, Jean-Pierre #
Issue Date: Jul-1997
Series Title: Clinical Genetics vol:51 issue:4 pages:246-249
Abstract: A submicroscopic deletion of chromosome 22q11 was demonstrated in three triplets and in their father. Two children had the typical DiGeorge sequence with at least three of the four cardinal features: conotruncal heart disease, hypoplastic thymus and typical facial features. Hypoparathyroidism was present in one of them. The third child had features of both DiGeorge and velo-cardio-facial syndrome (VCFS). The father presented with features compatible with VCFS. This observation further illustrates the wide variability in expression of a submicroscopic deletion of 22q11, even within one family.
ISSN: 0009-9163
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
Translational Cell & Tissue Research
Section Newborn (-)
Pediatric Cardiology Section (-)
Cardiovascular Developmental Biology
× corresponding author
# (joint) last author

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