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Inversion of chromosome 2 (p11p13): Frequency and implications for genetic counselling
Authors:Mac Donald  I M  Cox  D M
Institution:(1) Institut für Humangenetik, Universität Göttingen, Goßlerstr. 12d, D-3400 Göttingen, Federal Republic of Germany;(2) Present address: Neurologische Klinik, Universität Göttingen, Robert-Koch-Str. 40, D-3400 Göttingen, Federal Republic of Germany
Abstract:Summary We report a case of an X-autosome translocation t(X;4)(q13;p16) found in both sexes in three generations. The anomaly was diagnosed in a couple referred for cytogenetic investigation as a result of three spontaneous abortions. With the exception of the miscarriages there are no particularities in the gynecologic data of the woman or in the pedigree. In all 50 lymphocytes and in 66 of 68 fibroblasts investigated the normal X chromosome was the late replicating one.
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