A de novo em ~1.3 Mb microdeletion at 17q11.2 associated with Neurofibromatosis-Noonan syndrome
Appl. cancer res
;
32(4): 153-155, 2012. ilus, tab
Artigo
em Inglês
| LILACS, Inca
| ID: lil-706013
ABSTRACT
Introduction: Neurofibromatosis-Noonan syndrome is a clinical entity considered an extended Neurofibromatosis phenotype generally caused by different types of intragenic mutations at the NF1 gene. About 5%-10% of patients with neurofibromatosis diagnosis carry chromosomal microdeletions involving NF1, often presenting with a more severe phenotype than that observedin the patients carrying intragenic mutations; however, anticipating the presence of a deletion based only in the phenotype is not straightforward. Patient and Methods: Here we investigated by oligoarray-CGH (aCGH) the presence of a submicroscopic genomic rearrangement in a patientwith a clinical picture of Neurofibromatosis, and other characteristics compatible with Noonansyndrome. Results: The aCGH analysis revealed a germline de novo ~1.3 Mb microdeletion at 17q11.2 encompassing other coding genes besides the NF1 gene. Discussion: Up to now, thenumber of reported patients with Neurofibromatosis-Noonan syndrome carrying NF1 microdeletions is quite small. The continuous identification of patients carrying 17q11.2 deletions canhelp to establish a reliable genotype-phenotype relationship in this syndrome
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Neurofibromatoses
/
Síndrome de Noonan
Tipo de estudo:
Estudo prognóstico
/
Fatores de risco
Limite:
Humanos
Idioma:
Inglês
Revista:
Appl. cancer res
Assunto da revista:
Neoplasias
Ano de publicação:
2012
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Bayer/BR
/
Embrioconsult Genética Médica e Medicina Fetal/BR
/
Hospital A.C Camargo/BR
/
Instituto Nacional de Câncer/BR
/
Universidade de São Paulo/BR
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