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.
Alvarez YB, Garcia AG, Rosales LM, et al. 2q14 de novo interstitial deletion in a girl with intellectual disabilities and malformations. Research Results in Biomedicine. 2020;6(3):302-307. DOI:10.18413/2658-6533-2020-6-3-0-1
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The authors want to recognize the support of the RFBR and CITMA institutions of Russia and Cuba respectively for our study