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Associated with Neurofibromatosis - Noonan syndrome

Krepischi, Ana Cristina Victorino; Capelli, Leonardo Pires; Carvalho, Felipe Fidalgo de; Heck, Benjamin; de Camargo, Beatriz; Rosenberg, Carla.
Appl. cancer res; 32(4): 153-155, 2012. ilus, tab
Artigo Inglês | LILACS, Inca | ID: lil-706013

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
Biblioteca responsável: BR30.1
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