13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

Abstract Background The 13q deletion syndrome is a rare chromosome disorder associated with wide phenotypic spectrum, which is related to size and location of the deleted region and includes intellectual disability, growth retardation, craniofacial dysmorphisms, congenital malformations, and increas...

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Main Authors: Ilaria Bestetti, Alessandra Sironi, Ilaria Catusi, Milena Mariani, Daniela Giardino, Siranoush Manoukian, Donatella Milani, Lidia Larizza, Chiara Castronovo, Palma Finelli
Format: Article
Language:English
Published: BMC 2018-09-01
Series:Molecular Cytogenetics
Subjects:
13q deletion syndrome
Mosaicism
RB1
Array CGH
Interphase FISH
Online Access:http://link.springer.com/article/10.1186/s13039-018-0401-5

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http://link.springer.com/article/10.1186/s13039-018-0401-5

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