Characterization of a de Novo Constitutional Balanced Translocation t (2;11)(q33.2;q23.2) with Break Point on the Human NBEAL1-GeneHo

• Published in: Iranian journal of child neurology Vol. 12; no. 1; pp. 94 - 100
• Main Authors: Karimzadhagh, Javad, Salehgargari, Soraya, Omrani, Mirdavood
• Format: Journal Article
• Language: English
• Published: Iran Shahid Beheshti University of Medical Sciences 2018
• Subjects: Case Report; ALS; FISH; ALS2-gene; NBEAL1-Gene; Balanced translocation; BACs clone
• DOI: 10.22037/ijcn.v12i1.15657
• ISSN: 1735-4668

Reciprocal balanced translocations associated with clinical features are very rare. This study reports cytogenetic and molecular cytogenetic findings in a 3-yr-old female patient with mild developmental retardation, slight hypotone with a de novo balanced 46, XX, t(2; 11) (q33; q23) translocation. Her parent attended private office at Tehran, Iran in 2013. G-banded chromosomes and FISH-Analysis were used to examine the patient's karyotype as well as her parents. FISH-probes prepared with specific RP11-BAC clones mapped near 2q33 and 11q23 regions were used to characterize the location of the breakpoints. One of the break points is located within the human NBEAL1-Gene locus on chromosome 2, suggesting a correlation between this gene disruption and the patient's mild developmental retardation.