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派博传思国际中心 »期刊书目

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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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发表于 2025-3-21 18:48:43 | 显示全部楼层 |阅读模式
书目名称Uniparental Disomy (UPD) in Clinical Genetics
副标题A Guide for Clinicia
编辑Thomas Liehr
视频video
概述First book on this topic.The author is a leading expert in the field and his laboratory is collecting all published cases.Written in collaboration with a family support group.With numerous patient rep
图书封面Titlebook: Uniparental Disomy (UPD) in Clinical Genetics; A Guide for Clinicia Thomas Liehr Book 2014 Springer-Verlag Berlin Heidelberg 2014 Chromosom
描述.This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed..Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims..
出版日期Book 2014
关键词Chromosomal aberration; Chromosomal disorder; Genetic counseling; Genotype-phenotype correlation; Rare g
版次1
doihttps://doi.org/10.1007/978-3-642-55288-5
isbn_softcover978-3-662-51114-5
isbn_ebook978-3-642-55288-5
copyrightSpringer-Verlag Berlin Heidelberg 2014
The information of publication is updating

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Formation of UPD,togenetic event is still present, even if only in the mosaic state, provide deep insights into the abilities of gametes or embryonic cells to repair chromosomal imbalances and/or rearrangements. This chapter summarizes what is known on the formation of UPD in connection with triploidy, trisomy, mono
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UPD in Diagnostics and Genetic Counseling,e. UPD diagnostics also may be the logical consequence of a cytogenetic finding. In this chapter, the possibilities and means of UPD diagnostics, the personal experiences of some patients who were diagnosed with UPD, and a brief discussion on UPD in genetic counseling are provided.
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UPD Related Syndromes Caused by Imprinting, syndrome (Silver-Russell syndrome = SRS), paternal UPD 11 and paternal UPD 7 syndrome (Beckwith-Wiedemann-syndrome = BWS), maternal UPD 14 syndrome (Temple syndrome = TS), paternal UPD 14 syndrome (Kagami syndrome = KS), maternal UPD 15 syndrome (Prader-Willi syndrome = PWS), paternal UPD 15 syndro
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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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