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KMID : 0384119950150030503
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Korean Journal of Clinical Pathology
1995 Volume.15 No. 3 p.503 ~ p.506
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A Case of Ring Chromosome X Accompanied by Mental Retardation
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Abstract
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We present a patient with 45, X/46, X, r(X) mosaicism. The patient has mental retardation. Minor facial anomalies, short stature and single palmar crease. To detect the origin and breakpoint of the ring chromosome, we performed fluorescence in
situ
hybridization using digoxigenin-labeled Kallmann(KAL) Xp22.3 Region Probe with DXZ1 Chromosome X Control Probe(Oncor, USA) and COATASOMETM X Total Chromosome probe(Oncor, USA). Finally, we confirmed that the ring originated from chromosome X.
We report a case of a ring chromosome X with a brief review of literature(Korean J Clin Pathol 1995;15(3) : 503~5).
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