Delivering genetic services.
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Biomedical subjects
Publications and source records attributed to W H Finley.
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Little is known about the effect of amniocentesis and prenatal diagnosis of genetic disease on couples undergoing such studies. A questionnaire was composed to evaluate, among other things, the reason for referral, attitudes and concerns of the pregnant woman and her husband toward prenatal study, and suggestions for improving the experience. Of 315 women referred to this unit for this purpose, 196 have had time to complete their pregnancy and were mailed the questionnaire; 157 (80%) of the latter responded. The majority of the women found the experience reassuring, would recommend it to others, and would seek it again themselves with a subsequent pregnancy.
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A survey was conducted of 324 members of the Cajun isolate of Southern Alabama. Tradition and appearance suggest that this population of about 3,000 are not entirely White, Black, or Indian but constitute a triracial community somewhat reproductively isolated and inbred. The earliest American settlement in the area, along the banks of the Mobile and Tombigbee Rivers, lay between Spaniards to the South and Indian tribes on the other sides: Creek, Choctaw, and Cherokee. Physical measurements are reported for 71 adults, plus color of skin, eyes, and hair. X-rays were taken of wrist and ankle bones of some 253 children. Red blood samples were typed on adults and children, and haptoglobin, Gm, and Gc types were determined from serum. History and physical examinations were also made. Physical measurements and observations suggest predominantly White ancestry, and D2 analysis confirms this, with least similarity to Indians. Analysis of serological traits implies almost 70% White, almost 30% Black, and very little Indians genes. Few defects of clear genetic etiology were discovered. Growth patterns judged from X-rays appeared normal. All genetic loci testable were in Hardy-Weinberg equilibrium except Gc. While history and some common surnames suggest endogamy in the past, the medical and serological findings, plus some additional surnames, indicate that the isolate has already been largely diluted or dissolved.
Cell cultures were established from the biopsies of lung, skin and kidney from each of nine human fetuses, and chromosome analyses were performed on material through the fifth subculture. Kidney cell cultures generally showed a higher level of polyploidy than lung or skin. The frequencies of hyperdiploid cells and those with structural abnormalities were consistent with the low levels found in cultures of human lymphocytes. The data provide a normal cytogenetic baseline for human fetal material which may be useful in a variety of studies.
Genetic disorders account for a significant number of the health care problems in our society. Advances in therapy and educational opportunities for the handicapped have increased both the life span and quality of life for many of those affected by genetic disorders. Recent developments in clinical and laboratory genetics have made possible the better delineation of certain malformation and/or mental retardation syndromes, so that their mode of inheritance can be understood. This information enables the genetic counselor to predict the risk for occurrence of a large number of genetic disorders. Most genetic counseling is done, however, only after the birth of at least one affected individual has alerted the family to their predilection for having children with a genetic disorder. The carrier state of a certain number of genetic disorders can now be detected, so that even before the birth of their first child, a family can be forewarned that they are at increased risk. Previously this knowledge often influenced couples to decide against having any children. The advent of prenatal diagnosis of genetic disease, however, which was pioneered in the 1960s, allows specific diagnoses of inherited disorders in the fetus; parents no longer have only a mathematical risk figure for guidance. The technics which permit a preview of the genotype of the fetus with respect to a certain disorder constitute an exciting new field or medicine. They are not now available for use in routine pregnancies, but in high-risk situations the collaboration of the primary care physician and the medical geneticist can contribute significantly to the prevention of certain severely handicapping genetic disorders. The field is new and promises to offer much more in the future as more of the inherited disorders are biochemically characterized and become subject to prenatal detection.
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A structural abnormality of chromosome No. 1 was found in two families who had a history of repeated abortions. The propositus in Family H was a low birth weight, malformed infant who had a partial trisomy of 1g. His mother and a sibling were balanced carriers of a t(1;4) (q25;135). In family B, the 29-year-old phenotypically normal propositus and his mother were found to be balanced carriers of a t(1;12) (p12;q24). It is suggested that the fetal wastage in both families was related to the abnormal karyotypes of the parents. These two families also provide an opportunity to further understand the effect of an abnormality of chromosome number 1 on phenotype.
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