2658-6533Research Results in Biomedicine2658-653310.18413/2658-6533-2020-6-3-0-12103Genetics<strong>2q14 de novo interstitial deletion in a girl with intellectual disabilities and malformations</strong><strong>2q14 de novo interstitial deletion in a girl with intellectual disabilities and malformations</strong>AlvarezYomisisleidy B.AlvarezYomisisleidy B.ybravo@cngen.sld.cuGarciaAlina G.GarciaAlina G.alinagg@infomed.sld.cuRosalesLuanda M.RosalesLuanda M.lmrosales@cngen.sld.cuMéndez-RosadoLuis A.Méndez-RosadoLuis A.albermen@infomed.sld.cu20206300

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&#39;s neurodevelopmental disorder.

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&#39;s neurodevelopmental disorder.

neurodevelopmental disordersmicrodeletions2q14corpus callosum agenesisneurodevelopmental disordersmicrodeletions2q14corpus callosum agenesis

The authors want to recognize the support of the RFBR and CITMA institutions of Russia and Cuba respectively for our study

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