ABSTRACT
A 23 year old, gravida O, conceived 18 months following insertion of a copper containing IUD. At 10 weeks; gestation the IUD was removed. At 42 weeks' gestation, an infant was delivered normally, with severe upper limb reduction deformities and other minor malformations. However, reviewing the literature the possible role of the IUD in the etiology of limb reduction deformities cannot be supported.
Subject(s)
Congenital Abnormalities/etiology , Intrauterine Devices, Copper , Pregnancy , Ectromelia/etiology , Female , Humans , Infant, Newborn , MaleABSTRACT
On the basis of lymphocyte cultures, chromosome studies were carried out on 28 degreasers under different trichloroethylene load. Nine of these cases showed pathological rates of hypodiploid cells, but otherwise normal caryotypes; one case had a caryotype 47,XY,+mar (small metacentric extrachromosome). In these nine cases the trichloroethylene load, but not the exposure periods on the working place were significantly higher than in the control group.
Subject(s)
Chromosome Aberrations , Occupational Diseases/chemically induced , Trichloroethylene/adverse effects , Adult , Aged , Diploidy , Female , Humans , Karyotyping , Lymphocytes/ultrastructure , Male , Middle Aged , Occupational Diseases/pathologyABSTRACT
A reciprocal translocation t (5p-;19p+) in 3 generations is reported. Three carriers with this translocation were healthy, the propositus with the same translocation showed cheilopalatochisis bilaterally, microphthalmus, coloboma of the retina and dysplasia of the hip joints. The cytogenetically unremarkable father of the propositus exhibited micropthalmus and coloboma of the disc and a bifid uvula. It was supposed that there is no correlation between caryotype and phenotype in the propositus. His abnormalities might be induced genetically by the father. The risk data for the descendants of carriers with balanced translocations are discussed.
