Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population
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DOI: 10.1038/s10038-020-0769-z
Abstract: Pericentric inversions are among the known polymorphisms detected in the general population at a frequency of 1–2%. Despite their generally benign nature, pericentric inversions affect the reproductive potential of carriers by increasing the risk for… read more here.
Keywords: pericentric inversion; inversion; fertility problems; inv p23q22 ... See more keywords
A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization
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DOI: 10.2174/1389202918666170725102220
Abstract: Background: Short arm deletions of the X-chromosome are challenging issues for genetic counseling due to their low penetrance in population. Female carriers of these deletions have milder phenotype than male ones, considering the intellectual ability… read more here.
Keywords: distal deletion; pericentric inversion; girl distal; maternal pericentric ... See more keywords