Copy number variation in development disorders, malformative syndrome and short stature in Peru

Keywords: Genetic testing, Intellectual disability, Developmental disabilities, Autism spectrum disorder, DNA copy number variations


Objective: to establish the ratios of the copy number variations and regions of homozygosity through chromosomal microarray analysis (CMA) in children with neurodevelopmental disorders: development delay (DD), intellectual disability (ID), and/or autistic spectrum disorder (ASD), malformative syndrome (MS) and idiopathic short stature (ISS). Materials and methods: we evaluated 367 Peruvian children diagnosed clinically with ID, DD, ASD, ISS and MS to whom performed chromosomal microarray analysis in peripheral blood (750K CGH + SNP), between the years 2016-2018. Results: patients' age fluctuated between 4.8 months and 18 years old, with an average of 5.6 years old. The most frequent diagnoses were development delay (48%) and intellectual disability (30%). Abnormal results (pathogenic variants, likely pathogenic variants, uniparental disomies and loss of heterozygosity> 2.5%) were reported in 50.3%. The 53.28% of the cases with a diagnosis of intellectual disability and 47.92% of development delay showed abnormal results; while the children with short stature syndromic, malformative syndrome, and autistic disorders spectrum disorders showed abnormal results in 52.38%, 52% and 20% respectively. Additionally, we found that 6.25% of parents were non-declared consanguinity. Conclusions: Abnormal results found in our study was a higher ratio than other international reports regardless of the clinical diagnosis. Furthermore, we show a most rate of non-declared consanguinity in relation with previous reports.


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Abarca Barriga HH, Vásquez Sotomayor F de M, Trubnykova M, Chavesta Velasquez F, Chavez Pastor MA, Gallardo Jugo BE, Poterico Rojas J, Caballero Bedón N, La Serna Infantes J, Vasquez Loarte T. Copy number variation in development disorders, malformative syndrome and short stature in Peru. Acta Med Peru [Internet]. 2020Jul.1 [cited 2023Mar.31];37(2). Available from: