Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2859
Título: Partial trisomy of the pericentromeric region of chromosome 5 in a girl with Binder phenotype
Autor: Hadzsiev, Kinga
Dávid, Dezső
Szabó, Gyula
Czakó, Márta
Melegh, Béla
Kosztolányi, György
Palavras-chave: Binder Phenotype
Maxillonasal Dysplasia
Array Painting
Partial 5p Trisomy
Small Supernumerary Marker Chromosome
Doenças Genéticas
Data: 20-Dez-2014
Editora: Karger
Citação: Cytogenet Genome Res. 2014;144(3):190-5. doi: 10.1159/000369653. Epub 2014 Dec 20
Resumo: The patient reported here displayed the most characteristic features of Binder syndrome (OMIM: 155050), a rare maxillonasal malformation with unknown etiology. She was sent for genetic evaluation at the age of 10 years because of facial dysmorphism and borderline intellectual disability. Cytogenetic analyses showed a de novo supernumerary small ring chromosome with a pericentromeric region of chromosome 5 in all lymphocytes. Array analysis revealed that the marker contains a 20,950 kb genomic region comprising cytogenetic bands 5p14.1 to q11.1. Altogether 7 reports have been published in the literature with partial trisomy of chromosome 5 overlapping with our case. These 8 cases were analysed for phenotype/genotype correlation which suggested that the maxillonasal anomalies of Binder phenotype and trisomy of pericentromeric region of chromosome 5 may be in causal relationship. Further functional annotation studies of genes localized in this genomic region should take this into consideration. To the best of our knowledge, this is the first report on a patient with association of a chromosome abnormality and clinical characteristics of Binder phenotype.
Peer review: yes
URI: http://hdl.handle.net/10400.18/2859
DOI: 10.1159/000369653
ISSN: 1424-8581
Versão do Editor: http://www.karger.com/Article/Abstract/369653
Aparece nas colecções:DGH - Artigos em revistas internacionais

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