title: De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly.
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.
authors.affiliation: Center for Human Genetics, University Hospital Leuven, Belgium.
authors.forename: S G
authors.initials: SG
authors.lastname: Frints
authors.forename: E F
authors.initials: EF
authors.lastname: Schoenmakers
authors.forename: E
authors.initials: E
authors.lastname: Smeets
authors.forename: P
authors.initials: P
authors.lastname: Petit
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D001921:Brain / Q000473:pathology; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D004627:Embryonic Induction; D005260:Female; D053823:Hedgehog Proteins; D016142:Holoprosencephaly / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D051761:Paired Box Transcription Factors; D011506:Proteins / Q000235:genetics; D011985:Receptors, Serotonin / Q000235:genetics; D015534:Trans-Activators; D014157:Transcription Factors / Q000235:genetics
chemical_list: D053823:Hedgehog Proteins; D018398:Homeodomain Proteins; C491709:PAX4 protein, human; D051761:Paired Box Transcription Factors; D011506:Proteins; D011985:Receptors, Serotonin; C509239:SHH protein, human; D015534:Trans-Activators; D014157:Transcription Factors; C078730:serotonin 5 receptor