Simultaneous trisomy 10q24 leads to qter and monosomy 4p16: an example of epistasis at the chromosome level A family with a reciprocal translocation (4;10)(p16;q24) leading to a simultaneous 10q24 leads to qter trisomy and partial 4p16 monosomy in two females (niece and aunt) is ...
A severely retarded child with multiple malformations was found to present a mosaic karyotype 46,XX,-13,+t(13;13)(p11;q11)/46,XX,del (13)(p11), which probably originated as the result of a de novo 13/13 translocation in a parental gamete, followed by postzygotic fission of the transloc...
Issues pertaining to the impact and etiology of trisomy 21 and other aneuploidy in humans; a consideration of evolutionary implications, maternal age mecha... 1989 Issues pertaining to the impact and etiology of trisomy 21 and other aneuploidy in humans; a consideration of evolutionary implications,...
In the latter case, +8 would be secondary to a cryptic primary rearrangement and not involved in leukemogenesis as such, but rather in tumor evolution. Although hidden genetic changes have been found in some trisomies, for example, mutations in KIT in acute myelocytic leukemia (AML) with +4 ...
HumansConnective TissueFibroblastsChromosomes, Human, Pair 3Cell Transformation, NeoplasticTrisomyNeoplasmsClone CellsThe somatic mutation theory of tumorigenesis states that mutations are necessary for tumor development. On the other hand, acquired, clonal chromosomal alterations are occasionally detected in ...
trisomy and choice of active X BR Migeon et al 155 expression.6 We re-analyzed some specimens and studied new ones using XIST and TSIX RNA as markers for an inactive X.16 In humans, unlike mice, TSIX is a marker for the inactive X chromosome as it is co-expressed with XIST from th...
in iPSCs of human trisomy 18 syndrome Ting Li1,4, Hanzhi Zhao2,4, Xu Han1,4, Jiaying Yao3, Lingling Zhang2, Ying Guo1, Zhen Shao3, Ying Jin*,2 and Dongmei Lai*,1 Aneuploidy including trisomy results in developmental disabilities and is the leading cause of miscarriages in humans. ...
in 1959. Fifty years after the discovery of the origin of Down syndrome, the term “mongolism” is still inappropriately used; persons with Down syndrome are still institutionalized. Health problems associated with that syndrome often receive no or little medical care, and many patients still die ...
Where you say, “the right to life applies to all humans,” this is your wish, but you appear to be pitching it as if it is the status quo, and this is in the face of the reality that it is that very status quo that you desire to be changed. Needless to say, that does not ...
We have already reported that HLA-class I I molecules played important roles in the regulation of immune response to natural antigens, such as streptococcal antigen, cedar pollen antigen or schistosomal antigen in humans. To i n v e s t i g a t e the immunological function of HLA-class...