title: 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.
abstract: All patients with terminal deletion of chromosome 15q have been reported to show intrauterine growth retardation, postnatal growth retardation, abnormal facial appearance and developmental delay. Haploinsufficiency of IGF1R was considered to be responsible for these symptoms. However, it is difficult to explain other symptoms seen in some of the patients, such as congenital heart defects by the absence of IGF1R alone. Here, we reported a patient with congenital heart defects and a 5.78 Mb terminal deletion of chromosome 15q detected by array-CGH. Among the patients reported to share congenital heart defects and terminal deletion of chromosome 15q, our patient had the smallest deletion. Evaluating the deletion map, NR2F2 was considered a candidate gene contributing to congenital heart defects in patients with terminal deletion of chromosome 15q.
authors.affiliation: Department of Pediatrics, Asahikawa Medical College, 2-1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 078-8510, Japan. ana.beleza@chc.min-saude.pt
authors.forename: Eiki
authors.initials: E
authors.lastname: Nakamura
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Makita
authors.forename: Toshio
authors.initials: T
authors.lastname: Okamoto
authors.forename: Ken
authors.initials: K
authors.lastname: Nagaya
authors.forename: Tokitsugi
authors.initials: T
authors.lastname: Hayashi
authors.forename: Masaya
authors.initials: M
authors.lastname: Sugimoto
authors.forename: Hiromi
authors.initials: H
authors.lastname: Manabe
authors.forename: Genya
authors.initials: G
authors.lastname: Taketazu
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kajino
authors.forename: Kenji
authors.initials: K
authors.lastname: Fujieda
mesh_terms: D051837:COUP Transcription Factor II / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007621:Karyotyping
chemical_list: D051837:COUP Transcription Factor II; C095569:NR2F2 protein, human