Abstract
ABSTRACTObjective 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.
Highlights
Chromosome anomalies are associated with a spectrum of clinical characteristics, which include primarily facial dysmorphism, intellectual disability (ID), microcephaly, intrauterine growth retardation, neuropsychiatric alterations, and congenital cardiopathies.[1]Intellectual disability is characterized by lower than average intelligence or mental capacity, and by the lack of abilities needed for day-to-day living
15 to 20% of individuals with ID, autism spectrum disorders, and multiple congenital anomalies are diagnosed with the methodology of array-base comparative genomic hybridization.[4]
The inclusion criteria were individuals who presented with ID and/or dysmorphisms, had normal results of their karyotype or G band tests, and underwent the array-base comparative genomic hybridization (aCGH) test
Summary
Chromosome anomalies are associated with a spectrum of clinical characteristics, which include primarily facial dysmorphism, intellectual disability (ID), microcephaly, intrauterine growth retardation, neuropsychiatric alterations, and congenital cardiopathies.[1]Intellectual disability is characterized by lower than average intelligence or mental capacity, and by the lack of abilities needed for day-to-day living. The clinical consequences of a chromosome rearrangement are generally related to its location, size, and the quantity of genes involved and their function.[3] Patients with suspected chromosome anomalies are initially indicated for the karyotype test, with G-banding, a. Chromosomes are analyzed microscopically in metaphase with a resolution of 400 to 550 bands This level of resolution does not detect chromosome alterations that affect segments smaller than 5Mb. In average, 15 to 20% of individuals with ID, autism spectrum disorders, and multiple congenital anomalies are diagnosed with the methodology of array-base comparative genomic hybridization (aCGH).(4)
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