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KMID : 1235920090010020251
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Medical Journal of Catholoc University of Daegu
2009 Volume.1 No. 2 p.251 ~ p.255
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Four Cases of Pericentric Inversion (9) with Developmental Delay
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Kim Moon-Sun
Ju Mi
Kim Woo-Taek
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Abstract
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Pericentric inversion of chromosome 9 is relatively common as a constitutional genetic aberration without any apparent phenotypic consequences. The frequency estimated to be 1 to 3% in general population. The inv(9)(p12q13) has been reported in various human diseases such as couples with repeated spontaneous abortions, bad obstetric history, infertility and congenital anomalies. The authors encountered 4 cases of pericentric inversion of chromosome 9 with developmental delay patients without any apparent phenotypic consequences. Chromosome studies from peripheral blood showed all 46, XY, inv(9)(p12q13) karyotype. We report the first case of pericentric inversion of chromosome 9 with developmental delay in Korea with a review of literature.
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KEYWORD
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Pericentric inversion 9, Developmental delay
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