PubMed · 4495408
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
L Traynor. 1974-06-14. Nursing care study: postabortive depression.. https://pubmed.ncbi.nlm.nih.gov/4495408/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
We report on a de novo constitutional rearrangement involving the long arm of chromosome 7 in a second trimester fetus with the karyotype of 46,XX, inv dup del (7)(pter-q36::q36-q21.2:) pat. Both a large duplication (q21.2-q36) and a small deletion (within q36) were confirmed by FISH studies. DNA analysis on the family showed that the abnormal chromosome was derived from a single paternal homolog. A mechanism is proposed in light of this finding. The phenotype at autopsy was consistent with reported cases of similar duplications in chromosome 7 in that hydrocephalus, a depressed nasal bridge, low set ears, microretrognathia and a short neck were present.
The ethical problems of prenatal diagnosis are outlined, with chief emphasis on the procedural level. On the procedural level this involves not only ethical structuring of the type of prenatal investigations on offer, i.e. acquisition of information and care of the patient, but also scientific investigation of the individual procedures and their effects on the fetus and pregnancy experience. Special attention is focused on the question of establishing legitimate indications for the use of prenatal diagnosis. Finally, as part of a discussion on human freedom, the fundamental problem of human selection according to criteria of genetic efficiency is briefly raised.
Type 1 diabetes or insulin-dependent diabetes mellitus (IDDM) is due to autoimmune destruction of pancreatic beta-cells. Genetic susceptibility to IDDM is encoded by several loci, one of which (IDDM2) maps to a variable number of tandem repeats (VNTR) minisatellite, upstream of the insulin gene (INS). The short class I VNTR alleles (26-63 repeats) predispose to IDDM, while class III alleles (140-210 repeats) have a dominant protective effect. We have reported that, in human adult and fetal pancreas in vivo, class III alleles are associated with marginally lower INS mRNA levels than class I, suggesting transcriptional effects of the VNTR. These may be related to type 1 diabetes pathogenesis, as insulin is the only known beta-cell specific IDDM autoantigen. In search of a more plausible mechanism for the dominant effect of class III alleles, we analysed expression of insulin in human fetal thymus, a critical site for tolerance induction to self proteins. Insulin was detected in all thymus tissues examined and class III VNTR alleles were associated with 2- to 3-fold higher INS mRNA levels than class I. We therefore propose higher levels of thymic INS expression, facilitating immune tolerance induction, as a mechanism for the dominant protective effect of class III alleles.