RESUMEN
BACKGROUND: Chromosomal microarray analysis is an essential tool for copy number variants detection in patients with unexplained developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies. The study aims to determine the clinical significance of chromosomal microarray analysis in this patient group. Another crucial aspect is the evaluation of copy number variants detected in terms of the diagnosis of patients. METHODS AND RESULTS: A Chromosomal microarray analysis was was conducted on a total of 1227 patients and phenotype-associated etiological diagnosis was established in 135 patients. Phenotype-associated copy number variants were detected in 11% of patients. Among these, 77 patients 77 (57%, 77/135) were diagnosed with well-recognized genetic syndromes and phenotype-associated copy number variants were found in 58 patients (42.9%, 58/135). The study was designed to collect data of patients in Kocaeli Derince Training and Research Hospital retrospectively. In our study, we examined 135 cases with clinically significant copy number variability among all patients. CONCLUSIONS: In this study, chromosomal microarray analysis revealed pathogenic de novo copy number variants with new clinical features. Chromosomal microarray analysis in the Turkish population has been reported in the largest patient cohort to date.
Asunto(s)
Anomalías Múltiples , Trastorno del Espectro Autista , Variaciones en el Número de Copia de ADN , Discapacidades del Desarrollo , Humanos , Trastorno del Espectro Autista/genética , Trastorno del Espectro Autista/diagnóstico , Turquía/epidemiología , Variaciones en el Número de Copia de ADN/genética , Femenino , Masculino , Niño , Preescolar , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/diagnóstico , Anomalías Múltiples/genética , Anomalías Múltiples/diagnóstico , Adolescente , Fenotipo , Lactante , Discapacidad Intelectual/genética , Discapacidad Intelectual/diagnóstico , Aberraciones Cromosómicas , Análisis por Micromatrices/métodos , Estudios Retrospectivos , AdultoRESUMEN
As a multisystemic congenital mental retardation disorder/anomaly, Smith-Magenis syndrome (SMS) is commonly aroused from de novo interstitial deletion of the 17p11.2 chromosome. The deletion of this chromosome results with haploinsufficiency for the retinoic acid-induced 1 ( RAI1 ) gene. In this article, we present three cases, who were diagnosed with SMS with mental retardation and behavioral problems such as self-hugging and sleeping disturbances. During the evaluation of the patients, it has been found that there was a 3.4-Mb deletion in the 17p11.2 chromosome region of these patients. This deletion includes RAI1 that is a critically involved gene in SMS.
