Publication: Microdeletion syndromes, balanced translocations, and gene mapping
Microdeletion syndromes, balanced translocations, and gene mapping
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Date
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Citations
Schinzel, A. (1988). Microdeletion syndromes, balanced translocations, and gene mapping. Journal of Medical Genetics, 25(7), 454–462. https://doi.org/10.1136/jmg.25.7.454
Abstract
Abstract
Abstract
High resolution prometaphase chromosome banding has allowed the detection of discrete chromosome aberrations which escaped earlier metaphase examinations. Consistent tiny deletions have been detected in some well established malformation syndromes: an interstitial deletion in 15q11/12 in the majority of patients with the Prader-Willi syndrome and in a minority of patients with the Angelman (happy puppet) syndrome; a terminal deletion of 17p13.3 in most patients examined with the Miller-Dieker syndrome; an interstitial deletion of 8q23
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- Schinzel, Albert
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Citations
Schinzel, A. (1988). Microdeletion syndromes, balanced translocations, and gene mapping. Journal of Medical Genetics, 25(7), 454–462. https://doi.org/10.1136/jmg.25.7.454
