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Retinoblastoma is a eye disease in children and is characterized by biallelic activation of the retinoblastoma 1 gene, which is found at chromosome 13q14. 2. Children with interstitial chromosome 13q deletions that contain the RB1 gene have a predisposition to experience retinoblastoma and other abnormalities. Results Here's how we're able to describe a patient with profound muscle dystonia, severe developmental delay, and bilateral retinoblastoma in 13Q13. 3q14, affecting the RB1 gene. In the healthy father, Chromosome 12 and 13 [ins] and an additional balanced translocation of chromosome 7 and 15 [t] showed a balanced chromosomal rearrangement between chromosome 12 and 13 [ins] and an additional balanced translocation of chromosome 7 and 15 [t] in the healthy male. To accurately determine the recurrence risk in siblings, this case study emphasizes the importance of parental chromosomal analysis and FISH in parents of children with 13q deletion syndrome or large RB1 gene deletions.
Source link: https://doi.org/10.1186/s13039-020-00500-7
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