Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype-Reference-Cited by-同舟云学术

Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype

Published:2016-03 Issue:1 Volume:14 Page:30-34
ISSN:1679-4508
Container-title:Einstein (São Paulo)
language:
Short-container-title:Einstein (São Paulo)

Author:

Pratte-Santos Rodrigo¹,Ribeiro Katyanne Heringer²,Santos Thainá Altoe²,Cintra Terezinha Sarquis³

Affiliation:

1. Universidade Federal do Espírito Santo, Brazil; Faculdade de Ciências Biomédicas do Espírito Santo, Brazil

2. Faculdade de Ciências Biomédicas do Espírito Santo, Brazil

3. Laboratório de Genética do Espírito Santo, Brazil

Abstract

ABSTRACT Objective To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. Methods Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. Results Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants. Conclusion The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment.

Publisher

FapUNIFESP (SciELO)

Subject

General Medicine

Link

http://www.scielo.br/pdf/eins/v14n1/1679-4508-eins-14-1-0030.pdf

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