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- Passariello, A. (author)
Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy
- Article/chapterEnglish2013
Publisher, publication year, extent ...
- Elsevier BV,2013
Numbers
- LIBRIS-ID:oai:gup.ub.gu.se/186803
- https://gup.ub.gu.se/publication/186803URI
- https://doi.org/10.1016/j.ejmg.2013.08.005DOI
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- Language:English
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Notes
- Constitutional 11q deletion is a chromosome imbalance possibly found in MCA/MR patients analyzed for chromosomal anomalies. Its role in determining the phenotype depends on extension and position of deleted region. Loss of heterozygosity of 11q (region 11q23) is also associated with neuroblastoma, the most frequent extra cranial cancer in children. It represents one of the most frequent cytogenetic abnormalities observed in the tumor of patients with high-risk disease even if germline deletion of 11q in neuroblastoma is rare. Hereby, we describe a 18 months old girl presenting with trigonocephaly and dysmorphic facial features, including hypotelorism, broad depressed nasal bridge, micrognathia, synophrys, epicanthal folds, and with a stage 4 neuroblastoma without MYCN amplification, carrying a germline 11q deletion (11q14.1-q22.3), outside from Jacobsen syndrome and from neuroblastoma 11q critical regions. The role of 11q deletion in determining the clinical phenotype and its association with neuroblastoma development in the patient are discussed. (C) 2013 Elsevier Masson SAS. All rights reserved.
Subject headings and genre
- MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Medicinsk genetik hsv//swe
- MEDICAL AND HEALTH SCIENCES Basic Medicine Medical Genetics hsv//eng
- Neuroblastoma
- 11q syndrome
- MYCN
- Oncogene
- INTERSTITIAL DELETION
- 11Q
- IDENTIFICATION
- RISK
- DIAGNOSIS
- INFANT
- REGION
- TUMORS
Added entries (persons, corporate bodies, meetings, titles ...)
- De Brasi, D. (author)
- Defferrari, R. (author)
- Genesio, R. (author)
- Tufano, M. (author)
- Mazzocco, K. (author)
- Capasso, M. (author)
- Migliorati, R. (author)
- Martinsson, Tommy,1956Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics(Swepub:gu)xmarto (author)
- Siani, P. (author)
- Nitsch, L. (author)
- Tonini, G. P. (author)
- Göteborgs universitetInstitutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik (creator_code:org_t)
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- In:European Journal of Medical Genetics: Elsevier BV56:11, s. 626-6341769-7212
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