Characterization of a de Novo Constitutional Balanced Translocation t (2;11)(q33.2;q23.2) with Break Point on the Human NBEAL1-GeneHo
نویسندگان
چکیده
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.
منابع مشابه
A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.
PURPOSE To identify the gene disrupted by a de novo reciprocal balanced translocation t(6;8)(q26;q13) in a patient with Duane retraction syndrome (DURS). The break point in chromosome arm 8q is positioned within the DURS1 critical region. METHODS Fluorescence in situ hybridization (FISH) analysis using cosmid and BAC clones covering the DURS1 locus was performed to define the break point posi...
متن کاملPolymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm.
The constitutional t(11;22) is the most frequent recurrent non-Robertsonian translocation in humans, the breakpoints of which are located within palindromic AT-rich repeats on 11q23 and 22q11 (PATRR11 and PATRR22). Genetic variation of the PATRR11 was found to affect de novo t(11;22) translocation frequency in sperm derived from normal healthy males, suggesting the hypothesis that polymorphisms...
متن کاملA Case Report of a Novel Balanced Reciprocal Translocation t(2;14)(q11;q24) in a Young Woman with Two Pregnancy Losses
Reciprocal chromosome translocations, especially balanced rearrangements are known to be one of the main causes of recurrent miscarriage. In this case report, we performed the clinical and cytogenetic analysis on a young couple with two pregnancy losses. Though the couple had a normal clinical study, the cytogenetic analysis revealed a balanced reciprocal translocation of t(2;14)(q11;q24) where...
متن کاملBalanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea
AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...
متن کامل