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- Title
Characterization of a de Novo Constitutional Balanced Translocation t (2;11) (q33.2;q23.2) with Break Point on the Human NBEAL1-GeneHo.
- Authors
KARIMZADHAGH, Javad; SALEHGARGARI, Soraya; OMRANI, Mirdavood
- Abstract
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.
- Subjects
GENETICS of amyotrophic lateral sclerosis; CHROMOSOMES; CYTOGENETICS; DEVELOPMENTAL disabilities; GENES; PHENOTYPES
- Publication
Iranian Journal of Child Neurology, 2018, Vol 12, Issue 1, p94
- ISSN
1735-4668
- Publication type
Article