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

• Published in: Einstein (São Paulo, Brazil) Vol. 14; no. 1; pp. 30 - 34
• Main Authors: Pratte-Santos, Rodrigo, Ribeiro, Katyanne Heringer, Santos, Thainá Altoe, Cintra, Terezinha Sarquis
• Format: Journal Article
• Language: English; Portuguese
• Published: Brazil Instituto Israelita de Ensino e Pesquisa Albert Einstein 01.01.2016
• Subjects: Aberrações cromossômicas; Adolescent; Cariótipo; Child; Child, Preschool; Chromosome Aberrations - classification; Chromosomes, Human, Pair 6 - genetics; Comparative Genomic Hybridization - methods; Deficiência intelectual; Female; Hibridização genômica comparativa/métodos; Humans; Intellectual Disability - genetics; Karyotype; Male; MEDICINE, GENERAL & INTERNAL; Original; Retrospective Studies; Transtornos dismórficos corporais; Young Adult; Aberrações cromossômicas; Comparative genomic hybridization/methods; Body dysmorphic disorders; Intellectual disability; Cariótipo; Transtornos dismórficos corporais; Chromosome aberrations; Karyotype; Hibridização genômica comparativa/métodos; Deficiência intelectual
• ISSN: 1679-4508; 2317-6385; 2317-6385; 1679-4508
• DOI: 10.1590/S1679-45082016AO3592

To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. 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. 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.