American Journal of Medical GeneticsVolume 92, Issue 2 p. 153-154 Letter to the Editor Rare case of de novo interstitial deletion 2q13q21: Clinical, cytogenetic, and molecular studies Katja Eggermann, Katja Eggermann Division of Clinical Genetics, University of Tübingen, Tübingen, GermanySearch for more papers by this authorAndreas Dufke, Andreas Dufke Division of Clinical Genetics, University of Tübingen, Tübingen, GermanySearch for more papers by this authorHerbert Enders, Herbert Enders Division of Clinical Genetics, University of Tübingen, Tübingen, GermanySearch for more papers by this authorPeter Kaiser, Peter Kaiser Division of Clinical Genetics, University of Tübingen, Tübingen, GermanySearch for more papers by this authorMechthild Stötter, Mechthild Stötter University Children's Hospital, Tübingen, GermanySearch for more papers by this authorThomas Eggerman, Corresponding Author Thomas Eggerman [email protected] Division of Clinical Genetics, University of Tübingen, Tübingen, Germany Institute of Human Genetics, Technical University of Aachen, Aachen, GermanyInstitute of Human Genetics, Technical University of Aachen, Aachen, GermanySearch for more papers by this author Katja Eggermann, Katja Eggermann Division of Clinical Genetics, University of Tübingen, Tübingen, GermanySearch for more papers by this authorAndreas Dufke, Andreas Dufke Division of Clinical Genetics, University of Tübingen, Tübingen, GermanySearch for more papers by this authorHerbert Enders, Herbert Enders Division of Clinical Genetics, University of Tübingen, Tübingen, GermanySearch for more papers by this authorPeter Kaiser, Peter Kaiser Division of Clinical Genetics, University of Tübingen, Tübingen, GermanySearch for more papers by this authorMechthild Stötter, Mechthild Stötter University Children's Hospital, Tübingen, GermanySearch for more papers by this authorThomas Eggerman, Corresponding Author Thomas Eggerman [email protected] Division of Clinical Genetics, University of Tübingen, Tübingen, Germany Institute of Human Genetics, Technical University of Aachen, Aachen, GermanyInstitute of Human Genetics, Technical University of Aachen, Aachen, GermanySearch for more papers by this author First published: 25 April 2000 https://doi.org/10.1002/(SICI)1096-8628(20000515)92:2<153::AID-AJMG14>3.0.CO;2-QCitations: 1Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES Antich J, Carbonell X, Mas J, Clusellas N. 1983. De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn with a karyotype: 46,XY,del(2)(q12q14). Acta Paediatr Scand 72: 631–633. 10.1111/j.1651-2227.1983.tb09785.x CASPubMedWeb of Science®Google Scholar Boles RG, Pober BR, Gibson LH, Willis CR, McGrath J, Roberts DJ, Yang-Feng TL. 1995. Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review. Am J Hum Genet 55: 150–160. 10.1002/ajmg.1320550204 Web of Science®Google Scholar Brewer C, Holloway S, Zawalnyski P, Schinzel AA, FitzPatrick D. 1998. A chromosomal deletion map of human malformations. Am J Hum Genet 63: 1153–1159. 10.1086/302041 CASPubMedWeb of Science®Google Scholar Davis E, Grafe M, Cunniff C, Jones KL, Bogart M. 1991. 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We present an unusual case of monosomy 17p13-pter and monosomy Xp22.2-pter due to a dicentric translocation chromosome X/17 in a female newborn with severe anomalies. The karyotype was identified as 45,X,dic(X;17)(p22.2;p13) by high resolution GTG banding in lymphocytes. R banding showed the translocational X-chromosome to be late replicating, and there was no spreading of X-inactivation onto the autosomal segment. Furthermore, it could be demonstrated by C banding that the X-centromere in the translocation chromosome was inactive.The results of short tandem repeat (STR) typing confirmed the partial monosomy X and 17 as well as the paternal origin of the two chromosomes X and 17 which were involved in the translocation chromosome formation. The cell stage of the structural rearrangement was consistent with paternal meiosis as well as with postzygotic mitosis. The monosomy was confirmed in lymphocytes and fibroblasts, and mosaicism was not detected.