DOI: 10.18413/2658-6533-2020-6-3-0-1

2q14 de novo interstitial deletion in a girl with intellectual disabilities and malformations

Background: Neurodevelopmental disorders have a prevalence of approximately 3% in the population, the genetic factor is involved in this condition. Microdeletions that comprise the 2q14.1q14.3 region are rare events. The aim of the study: To describe a girl with an interstitial deletion of the 2q14 region with a severely affected phenotype and to compare her with reports from the international literature. Materials and methods: Cell culture and the obtaining of chromosomes were carried out according to the standardized techniques in our laboratory. Results: Girl evaluated for dismorphias and brain malformation (corpus callosum agenesis). The chromosomal study with a resolution of 565 bands showed an interstitial deletion in the long arm of chromosome 2. Karyotype: 46, XX, del (2) (q14.1q14.2). Conclusion: The correct clinical analysis of the patient and the high-resolution cytogenetic technique has been successful for detection of the microdeletion in this case helping in genetic counseling and in elucidating the genetic origin of the patient's neurodevelopmental disorder.

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