对核型正常的畸形和智力残疾患者进行比较基因组杂交芯片分析染色体异常情况。
Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype.
作者信息
Pratte-Santos Rodrigo, Ribeiro Katyanne Heringer, Santos Thainá Altoe, Cintra Terezinha Sarquis
机构信息
Universidade Federal do Espírito Santo, Vitória, ES, Brazil.
Faculdade de Ciências Biomédicas do Espírito Santo, Cariacica, ES, Brazil.
出版信息
Einstein (Sao Paulo). 2016 Jan-Mar;14(1):30-4. doi: 10.1590/S1679-45082016AO3592.
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.
目的
通过比较基因组杂交芯片（CGH-array）研究具有畸形特征和智力残疾且常规核型正常的患者的染色体异常情况。
方法
回顾性研究，于2012年1月至2014年2月开展，分析39例患者的CGH-array结果。
结果
26例（66.7%）患者结果正常，13例（33.3%）显示异常结果——其中，6例（15.4%）有致病性变异，6例（15.4%）变异被指定为不确定，1例（2.5%）为非致病性变异。
结论
通过CGH-array对智力残疾和畸形特征患者的基因谱进行表征有助于做出病因诊断，随后为家庭提供遗传咨询和进行特定治疗。
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