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Title: Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother
Authors: Fryns, Jean-Pierre ×
Smeets, Eric
Devriendt, Koenraad
Petit, Paul #
Issue Date: Sep-1998
Publisher: Elsevier Science
Series Title: Annales de Génétique vol:41 issue:2 pages:73-76
Abstract: We present here a 6-year-old girl with the clinical signs of Wolf-Hirschhorn syndrome (WHS). Only after FISH studies the suspected 4p16.3 deletion could be confirmed. FISH studies in the mother showed that she was carrier of a balanced/unbalanced mosaicism with a 4p/16p translocation in 60% of the cells, and 4p16.3 deletion in 40% of the cells.
ISSN: 0003-3995
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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