Titlebook: Uniparental Disomy (UPD) in Clinical Genetics; A Guide for Clinicia Thomas Liehr Book 2014 Springer-Verlag Berlin Heidelberg 2014 Chromosom

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迷住

Formation of UPD,hromosomal imbalances and/or rearrangements. This chapter summarizes what is known on the formation of UPD in connection with triploidy, trisomy, monosomy, gamete complementation (Robertsonian) translocations, isochromosomes, and other rearrangements.

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978-3-662-51114-5Springer-Verlag Berlin Heidelberg 2014

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Introduction,th imprinting, recessive gene mutation activation, and mosaicism. In addition, some basics on molecular genetics and cytogenetics are provided. The introduction of cytogenetics is important because UPD is a chromosomal-based disorder.

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Paternal UPD by Chromosome,ir chromosomal origin. Personal reports on the experiences of families or patients with a UPD-related disease, how they obtained their diagnoses, and what it means to live with the disease are also provided.

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https://doi.org/10.1007/978-3-642-55288-5Chromosomal aberration; Chromosomal disorder; Genetic counseling; Genotype-phenotype correlation; Rare g