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Biomedical subjects

S C Finley

Publications and source records attributed to S C Finley.

At least 37 records · Page 2Linked to original sources
PubMed1984

An unbalanced (6q;13q) translocation in a male with clinical features of Ehlers-Danlos type II syndrome.

Ehlers-Danlos syndrome has been divided into several different types according to the variety and severity of clinical manifestations, and may follow autosomal dominant, autosomal recessive, or X linked patterns of inheritance. Only rarely have chromosome anomalies been seen in patients manifesting phenotypic features of the syndrome and most are considered insignificant. However, one case report involved a balanced t(9;17)(q34;q11) in a female with the clinical features of Ehlers-Danlos type I and IV syndromes and, as noted by McKusick: "It is possible, furthermore, that certain very rare syndromes that are transmitted in a Mendelian manner are the result of small chromosome aberrations, such as deletion or inversion, affecting the action of several genes". We present a 14 year old male with features of Ehlers-Danlos type II syndrome and an unbalanced (6q;13q) translocation.

Adolescent↗
PubMed1984

Paternal Robertsonian translocation t(13q;14q) and maternal reciprocal translocation t(7p;13q) in a couple with repeated fetal loss.

Marriages involving partners both of whom have abnormal karyotypes are rare and are usually ascertained because of a history of infertility, repeated abortions, or the birth of a balanced translocation carrier or chromosomally abnormal offspring. Abnormalities which have been noted include sex chromosome aberrations in both parents or a sex chromosome abnormality in one parent and an autosomal abnormality in the other. Four papers have reported balanced reciprocal autosomal translocations in both parents, two couples representing a first cousin marriage. We present a case of a paternal 13;14 Robertsonian translocation and a maternal (7p;13q) reciprocal translocation in a couple with repeated fetal loss.

Abortion, Habitual↗
PubMed1983

Psychiatric disturbances in a 6-year-old boy with Klinefelter's syndrome.

A 6-year-old boy with severe psychiatric problems was found to have Klinefelter's syndrome. He had a mixed emotional and behavioral clinical picture similar to and difficult to distinguish from that of other child psychiatric disorders. Klinefelter's syndrome should be considered in the differential diagnosis of a prepubertal boy with multiple emotional, behavioral, academic, social, and developmental problems.

Adult↗
PubMed1981

Ring 4 chromosome with terminal p and q deletions.

A ring 4 chromosome was found in a boy with low birth weight, microcephaly, micrognathia, rounded broad nose, malformed ears, cleft soft palate, and retardation in growth and development. The ring 4 is formed by union of the ends after breakage and loss of the terminal parts of the short (p) arm and the long (q) arm. G-banded chromosome studies showed our patient to have a union at p16q35. Clinical findings in our patient were compared with those in others with the union at p16q35, p15q35, and p16q33. The patients with p15q35 had a deletion of more p-arm genetic material than those with the p16q35 union, and the patient with p16q33 had a greater loss of q-arm material. The loss of only a small part of the p16 band is associated with low birth weight, microcephaly, and retardation in growth and development.

Abnormalities, Multiple↗
PubMed1978

Prenatal detection of the 47, XYY karyotype.

The ethical decisions involved before and after the prenatal diagnosis of a 47, XYY karyotype in the fetus of a 32-year-old woman are discussed. It was decided that the parents should be presented with all the known facts about XYY-associated abnormalities and allowed to choose whether pregnancy should continue; the physician's role would be to support them in their decision and help them carry it out.

Adult↗
PubMed1978

Genetic counseling.

Explore the source record for details and available documents.

Chromosome Aberrations↗
PubMed1977

Participants' reaction to amniocentesis and prenatal genetic studies.

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.

Amniocentesis↗
PubMed1976

Karyology of primary human fetal cell cultures.

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.

Cells, Cultured↗
PubMed1976

The diagnosis of genetic disorders before birth.

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.

Amniocentesis↗
PubMed1975

Fetal loss and familial chromosome 1 translocations.

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.

Abortion, Habitual↗