Characterization of a de Novo Constitutional Balanced Translocation t (2;11)(q33.2;q23.2) with Break Point on the Human NBEAL1-GeneHo
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DOI: 10.22037/ijcn.v12i1.15657
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,… read more here.
Keywords: characterization novo; translocation; q33 q23; human nbeal1 ... See more keywords