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
Article
in English
| 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 andMethods:
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
Full text:
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Index:
LILACS (Americas)
Main subject:
Neurofibromatoses
/
Noonan Syndrome
Type of study:
Prognostic study
/
Risk factors
Limits:
Humans
Language:
English
Journal:
Appl. cancer res
Journal subject:
Neoplasms
Year:
2012
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
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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