Controlled somatic and germline copy number variation in the mouse model [0.03%]
可控的体细胞和胚系拷贝数变异的小鼠模型
Yann Hérault,Arnaud Duchon,Damien Maréchal et al.
Yann Hérault et al.
Changes in the number of chromosomes, but also variations in the copy number of chromosomal regions have been described in various pathological conditions, such as cancer and aneuploidy, but also in normal physiological condition. Our class...
Genomic and epigenomic instability, fragile sites, schizophrenia and autism [0.03%]
基因组和表观基因组不稳定、脆弱位点、精神分裂症及孤独症
Cassandra L Smith,Andrew Bolton,Giang Nguyen
Cassandra L Smith
Increasing evidence links genomic and epigenomic instability, including multiple fragile sites regions to neuropsychiatric diseases including schizophrenia and autism. Cancer is the only other disease associated with multiple fragile site r...
S G Vorsanova,Y B Yurov,I V Soloviev et al.
S G Vorsanova et al.
Human molecular cytogenetics integrates the knowledge on chromosome and genome organization at the molecular and cellular levels in health and disease. Molecular cytogenetic diagnosis is an integral part of current genomic medicine and is t...
Somatic mosaicism in cases with small supernumerary marker chromosomes [0.03%]
小的额外标记染色体患者中体细胞嵌合现象的研究
Thomas Liehr,Tatyana Karamysheva,Martina Merkas et al.
Thomas Liehr et al.
Somatic mosaicism is something that is observed in everyday lives of cytogeneticists. Chromosome instability is one of the leading causes of large-scale genome variation analyzable since the correct human chromosome number was established i...
The human genome puzzle - the role of copy number variation in somatic mosaicism [0.03%]
人类基因组的拼图——体细胞镶嵌现象中拷贝数变异的作用
Hasmik Mkrtchyan,Madeleine Gross,Sophie Hinreiner et al.
Hasmik Mkrtchyan et al.
The discovery of copy number variations (CNV) in the human genome opened new perspectives in the study of the genetic causes of inherited disorders and the etiology of common diseases. Differently patterned instances of somatic mosaicism in...
Y B Yurov,S G Vorsanova,I Y Iourov
Y B Yurov
The human genome demonstrates variable levels of instability during ontogeny. Achieving the highest rate during early prenatal development, it decreases significantly throughout following ontogenetic stages. A failure to decrease or a spont...
Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About? [0.03%]
生殖细胞和体细胞性染色体21三体型嵌合体：它的发生频率是多少，它对嵌合体携带者意味着什么以及它是如何产生的？
Maj A Hultén,Jon Jonasson,Ann Nordgren et al.
Maj A Hultén et al.
It is well known that varying degrees of mosaicism for Trisomy 21, primarily a combination of normal and Trisomy 21 cells within individual tissues, may exist in the human population. This involves both Trisomy 21 mosaicism occurring in the...
Jingly F Weier,Christy Ferlatte,Heinz-Ulli G Weier
Jingly F Weier
In the mature chorion, one of the membranes that exist during pregnancy between the developing fetus and mother, human placental cells form highly specialized tissues composed of mesenchyme and floating or anchoring villi. Using fluorescenc...
Caroline Robberecht,Evelyne Vanneste,Anne Pexsters et al.
Caroline Robberecht et al.
Only 25 to 30% of conceptions result in a live birth. There is mounting evidence that the cause for this low fecundity is an extremely high incidence of chromosomal rearrangements occurring in the cleavage stage embryo. In this review, we g...
I Y Iourov,S G Vorsanova,Y B Yurov
I Y Iourov
It is hard to imagine that all the cells of the human organism (about 10(14)) share identical genome. Moreover, the number of mitoses (about 10(16)) required for the organism's development and maturation during ontogeny suggests that at lea...