Down syndrome (DS), also known as "trisomy 21", is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Silencing these extra genes is beyond existing technology and seems to be impractical. A number of pharmacologic options have been proposed to change the quality of life and lifespan of individuals with DS. It was reported that treatment with epigallocate...

The effect of an additional chromosome 6 upon recombination in chromosome 9 was investigated in maize. Trisomic 6 plants and their disomic sibs, heterozygous for three loci of chromosome 9 (yg, sh and wx), were testcrossed, and recombination in the regions yg-sh and sh-wx was analyzed. Single exchanges in the sh-wx region and double exchanges were more frequent in trisomics, particularly in fem...

Reciprocal translocations produce imbalances by three types of disjunction which are, in decreasing frequency, adjacent 1, 3:1, and adjacent 2. Adjacent 1 disjunction produces duplication deficiencies of inverse topography to those of adjacent 2. The imbalanced chromosome segments in one of these types are balanced in the other. The disjunction 3:1 produces pure trisomies and monosomies. The fo...

Management of neonates with trisomy 18, a common and important chromosomal syndrome, is controversial. Withholding or withdrawal of intensive treatment (cesarean, resuscitation, respiratory support, and surgery) has been recommended because of the short life span (median survival time: 10–15 days; survival at age 1 year 5–10% [Rasmussen et al., 2003]) and profound mental retardation by many in ...

Cytogenetic studies from case 1 included cultures of peripheral blood and skin fibroblasts. Karyotypes from both cultures showed trisomy D(47,XX, + D). Giemsa banding of cells from the skin fibroblast culture, using a modification of the method of Seabright (1971), showed 47,XX,+ 13 (Fig. 3). Chromosome analysis of peripheral leucocytes of the parents were normal. In case 2 the karyotype from a...

which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. A 35-year-old woman was admitted to undergo work-up for fatigue. Her blood leukocyte counts were 17.7×10 9 /L, hemoglobin levels were 6.9 g/dL, and platelet counts were 15×10 9 /L. The bone marrow aspirate showed 63% of blasts with Auer rods and bone marrow ...