Report of a patient with fragile X syndrome unexpectedly identified by karyotype analysis

ABSTRACT Fragile X syndrome is considered the main known cause of inherited learning disabilities and it is characterized by mutations in the FMR1 gene. Our aim was to report an unexpected detection of a patient with fragile X syndrome by GTG-Banding karyotype analysis (G-bands after trypsin and Giemsa). The karyotype analysis identified Xq27.3 fragility in 17% of the metaphases analyzed and in 54% when using TC 199, consistent with the cytogenetic diagnosis of the syndrome. This case was the sole one to present the fra(X) tests in the high-resolution karyotype analysis in our care service, contributing to future diagnoses of patients with history of developmental delay.

Bibliographic Details

Main Authors:	Floriani,Maiara A., Boas,Marcelo R. Vilas, Rosa,Rafael Fabiano M., Trevisan,Patrícia, Dorfman,Luiza Emy, Rosa,Rosana C. M., Zen,Tatiana D., Zen,Paulo Ricardo G.
Format:	Digital revista
Language:	English
Published:	Sociedade Brasileira de Patologia Clínica 2017
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442017000200108
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