5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects
| Autor: | Hiromi Manabe, Yoshio Makita, Ken Nagaya, Toshio Okamoto, Masaya Sugimoto, Tokitsugi Hayashi, Eiki Nakamura, Kenji Fujieda, Genya Taketazu, Hiroki Kajino |
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| Rok vydání: | 2010 |
| Předmět: |
Heart Defects
Congenital Pathology medicine.medical_specialty Candidate gene Chromosome Disorders COUP Transcription Factor II Genetics medicine Humans Genetic Predisposition to Disease Genetics (clinical) Insulin-like growth factor 1 receptor Chromosomes Human Pair 15 Comparative Genomic Hybridization business.industry Postnatal growth retardation Chromosome Infant Karyotype General Medicine Chromosome Banding Terminal (electronics) Karyotyping Female Chromosome Deletion Haploinsufficiency business Comparative genomic hybridization |
| Zdroj: | European journal of medical genetics. 54(3) |
| ISSN: | 1878-0849 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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