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Chromosome 13q deletion syndrome is a form of chromosome abnormalities that are unusually present genetic abnormalities. Speech communication disorders, particularly in relation to speech production, could have one of the potential effects of motor skills growth's difficulties. In the case of chromosome 13q deletion, the logopedic therapy also includes swallowing, as well as exercises aimed at increasing muscle strength in the areas of facial, articulators, neck, shoulders, chest, and upper limbs. For example, dysarthria may occur in speech processing. Whereas, learning to communicate may require a non-verbal communication within language processing, as well as other languages.
Retinoblastoma is an ocular tumor of the pediatric age caused by biallelic inactivation of the RB1 gene. Seven new patients with interstitial 13q deletion involving RB1 were identified in the present study, which used array-CGH. Among these patients, three patients with medium or large 13q deletions did not suffer psychomotor delay. This study, in conclusion, provides important new links to the 13q deletion syndrome, although further research is needed to better characterize the role of various genes and determine how the haploinsufficiency of this region can determine ID.
Source link: https://doi.org/10.3390/genes12091318
Abstract Background Retinoblastoma is a eye disease in children that is characterized by biallelic activation of the retinoblastoma 1 gene, which is found at chromosome 13q14. 2. Children with interstitial chromosome 13q deletions that include the RB1 gene are at a risk of experiencing retinoblastoma and other characteristic. In the healthy father, Chromosome 12 and 13 [ins] and an additional balanced translocation of chromosome 7 and 15 [t] showed a balanced chromosome rearrangement between chromosome 12 and 13 [ins] and an additional balanced translocation of chromosome 7 and 15 [t] respectively. Conclusions The de novo RB1 deletions in offspring are a rare occurrence of de novo RB1 deletions in offspring. This case study emphasizes the importance of parental chromosomal analysis and FISH in parents of children with 13Q deletion syndrome or major RB1 gene deletions in siblings in order to specifically identify the recurrence risk in siblings.
Source link: https://doi.org/10.1186/s13039-020-00500-7
Background: Factor VII deficiency is one of the rare inherited bleeding disorders present in the Factor VII gene on chromosome 13, although only a few cases have been reported. Factor VII deficiency was first noted by Alexander et al. We did a case report and literature review for deficiency of coagulation factors VII in a 4-year patient with chromosomal aberration 13q deletion syndrome. Results: A review of chromosome 13 revealed that Factors VII and X are coded on the long arm of chromosome 13, within the deleted region. Conclusion: Congenital Factor VII deficiency is a rare cause of bleeding disorder in a bleeding infant presenting in infancy, where platelets and aPTT are normal with abnormal PT values.
Source link: https://doi.org/10.15406/htij.2021.09.00242
Background: Factor VII deficiency is a rare inherited bleeding disorder that has been found in the Factor VII gene on chromosome 13, with only few cases reported. Alexander et al. first described a Factor VII deficiency, according to him. The aim and method: We did a case report and literature review for deficiency of coagulation factors VII in a 4 years patient with chromosomal aberration 13q deletion syndrome. Result: A analysis of the gene map of chromosome 13 showed that Factors VII and X were coded on the long arm of chromosome 13, within the deleted region. Conclusion: Congenital Factor VII deficiency is a rare symptom of bleeding in a bleeding child in infancy, where platelets and aPTT are normal with abnormal PT.
Source link: https://doi.org/10.15406/htij.2020.09.00242
Mental retardation and growth deficiency have been two phenotypes associated with group 1 and 2, whereas group 3 has been characterized by the presence of mental retardation but not so often the absence of major malformations. These results extend the characterization of the phenotype associated with group 3 of the 13q deletion syndrome to include more specific clinical manifestations. This case study will lead to more accurate genetic diagnosis as well as helping to identify new people with this condition.
Source link: https://doi.org/10.1177/0883073807306257
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