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SAS Journal of Medicine | Volume-10 | Issue-10
A Novel Unbalanced Chromosome 8 Translocation with Multiple Congenital Malformations
Yunis A. Mohamed, Anees Obaid Ahmed, Hani Hassan, Hanan Sakr Sherbiny, Jaber A. Alfaifi, Abdullah S. Alshahrani, Saif M. Alqahtani
Published: Oct. 18, 2024 | 95 99
DOI: https://doi.org/10.36347/sasjm.2024.v10i10.039
Pages: 1180-1186
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Abstract
Unbalanced translocation is estimated to be responsible for about 1% of developmental delay and intellectual disabilities. It is inherited from parent with balanced translocation or appears as a new mutation “Denovo”. Offsprings of balanced translocation’s parents usually display 46 chromosomes including the derivative chromosome and usually partially trisomic and partially monosomic as well. Partial trisomy 8 is responsible for most of the phenotypic features in our case report.