Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome |
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Authors: | H -J Lüdecke Ruth Burdiek Gabriele Senger U Claussen E Passarge B Horsthemke |
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Institution: | (1) Institut für Humangenetik, Universitätsklinikum, Hufelandstrasse 55, D-4300 Essen 1, Federal Republic of Germany;(2) Institut für Humangenetik und Anthropologie, Schwabachanlage 10, D-8520 Erlangen, Federal Republic of Germany |
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Abstract: | Summary The anonymous DNA probe L32, which defines the D8S48 locus within the Langer-Giedion syndrome chromosome region on the long arm of chromosome 8, was used to search for a common restriction fragment length polymorphism. A HindIII and an MspI polymorphism were detected (polymorphism information contents 0.25 and 0.19, respectively). Both polymorphisms were informative in the family of a Langer-Giedion patient carrying a de novo interstitial deletion 8q23-24.1. Lack of transmission of a maternal haplotype indicates that this deletion occurred during maternal gametogenesis. This finding contrasts with the frequent paternal origin of mutations in other microdeletion syndromes. |
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