Characterization of a de novo constitutional balanced translocation

Javad Karim Zad Hagh, Soraya Saleh Gargari, Mir Davood Omrani

Abstract


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Abstract

 Reciprocal balanced translocations associated with clinical features are very rare. This study reports cytogenetic and molecular cytogenetic findings in a 3-year-old patient with mild developmental retardation, slight hypotone with a de novo balanced 46, XX, t(2; 11) (q33; q23) translocation. 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. The FISH results revealed that 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. 

 


Keywords


Balanced translocation, NBEAL1-Gene, ALS2-Gene, ALS, FISH, BACs clone

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References


- Chen J, Lu Y, Xu J, Huang Y, Cheng H, Hu G, Luo C, Lou M, Cao G, Xie Y, Ying K. Identification and characterization of NBEAL1, a novel human neurobeachin-like 1 protein gene from fetal brain, which is up regulated in glioma. Brain Res Mol Brain Res. 2004 Jun 18;125(1-2):147-55.

- Cheng S, Fockler C, Barnes WM, Higuchi R. Effective amplification of long targets from cloned inserts and human genomic DNA.

- Hook EB, Hamerton JL. Hook EB, Porter IH. Population Cytogenetics – Studies in Humans. New York: Academic Press; 1977. The frequency of chromosome abnormalities detected in consecutive newborn studies – differences between studies – results by sex and by severity of phenotypic involvement; pp. 63–79.

- Shaw PJ. Genetic inroads in familial ALS. Nat Genet. 2001 Oct;29(2):103-4.

- Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet. 2001 Oct;29(2):160-5.

- Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnostics: clinical significance and distribution of breakpoints. Am J Hum Genet. 1991;49:995–1013.




DOI: https://doi.org/10.22037/ijcn.v12i1.15657

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