Trisomy 13: a new recurring chro- mosome abnormality in acute leukemia. Blood 1990;76:1614-21.DOhner H, Arthur DC, Ball ED, Sobol RE, Davey FR, Lawrence D, et al. Trisomy 13: A new recurring chromosome abnormality in acute leukemia. ...
Trisomy 13 in the mouse (p 95-104) The fetal development of mice trisomic for chromosome 13 (Ts 13) was investigated. Trisomic fetuses were obtained from the progeny of male mice heterozygous for the two Robertsonian translocation chromosomes Rb (11.13)4Bnr and Rb (6.13)3... K Hongell,A...
Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of ...
Analysis by Q- or G-banding of 200 cells revealed 18 with chromosome aneuploidy. Among those cells with three X's, two were of the same length while the third was about 10% longer with the short arm twisted and slightly uncoiled in the centromere region. In one cell, the long chromatid...
Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mild...
Patau syndrome (trisomy 13) in neonatal period Introduction: The trisomy of chromosome 13 is the most severe of the autosomal trisomies with an incidence of 1:5000 births. Ele- ments of diagnosis are: cranial and central nervous system (CNS) malformations, ocular, skeletal, heart and... M ...
These data provide candidate genes that might be involved in the phenotypes of Down syndrome, and reveal a complex regulation of gene expression that is not only related to gene copy number. 展开 关键词: expression aneuploid chromosome syndrome ...
Individuals with chromosomal trisomies carry three copies of a chromosome in their cells, instead of two, following an incomplete separation (disjunction) during meiosis6. Except in cases of trisomy mosaicism (where only some cells are affected), or partial trisomy (where only a part of a chromos...
trisomy- chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell Down syndrome,Down's syndrome,mongolianism,mongolism,trisomy 21- a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardat...
Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mild...