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Title: De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly
Authors: Frints, S G ×
Schoenmakers, E F
Smeets, Eric
Petit, Paul
Fryns, Jean-Pierre #
Issue Date: Mar-1998
Series Title: American Journal of Medical Genetics vol:75 issue:2 pages:153-8
Abstract: We report on a de novo 7q36 deletion in a 3-month-old girl with manifestations of the 7q terminal deletion syndrome. Only minimal findings of holoprosencephaly (HPE) were present since only a partial corpus callosum hypoplasia was seen on a magnetic resonance imaging scan of the brain. Extensive fluorescence in situ hybridization analysis showed that the HPE3 critical gene region, inclusive Sonic hedgehog (SHH), En2 (HOX1), and HTR5A, was deleted. A review of 33 other patients with a de novo terminal 7q deletion and the different types of HPE manifestations within these patients will be presented.
ISSN: 0148-7299
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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