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Biomedical subjects

H A Bixenman

Publications and source records attributed to H A Bixenman.

8 recordsLinked to original sources
PubMed1993

Chromosome instability and the FAMMM syndrome.

Our study involved two extended familial atypical multiple mole melanoma (FAMMM) kindreds wherein a sufficient number of informative, high genetic risk, and affected patients enabled collection of pertinent tissue samples (normal skin/fibroblasts and atypical nevi/melanocytes) for cytogenetic analysis, and peripheral blood lymphocytes for DNA usage for linkage studies. We observed marked chromosome instability, as evidence by increased frequencies of cells with chromosomal rearrangements (translocations, deletions, and inversions) in cell cultures from atypical nevi and normal skin. There was no evidence of linkage of the FAMMM disease locus to any of the markers for the short arm of chromosome 1p in these two families. Well-characterized FAMMM kindreds provide an opportunity for biomarker investigations for elucidating heterogeneity and, ultimately, improving cancer control.

Adolescent↗
PubMed1991

Chromosome analysis guidelines preliminary report.

These guidelines have been developed by the Association of Cytogenetic Technologists (ACT) for chromosome analysis. In formulating its recommendations, the task force reviewed guidelines established by several states and regional genetics groups. Draft guidelines prepared by the task force were reviewed by a panel of expert consultants, all of whom are laboratory directors and well known in their respective fields of expertise. The intention of the task force was to reflect procedures that are believed to be generally accepted by cytogenetic laboratories as basic criteria for effective chromosome analysis and that are consistent with existing cytogenetic quality assurance guidelines. It is important to stress that the primary purpose of the task force at this time is to establish guidelines for chromosome analysis. While the present guidelines address issues other than chromosome analysis, they do so incidentally and only in general terms. A more comprehensive discussion of other technical aspects of cytogenetics can be found in the forthcoming second edition of the ACT Cytogenetics Laboratory Manual. It is important to note that these guidelines are not intended to prescribe appropriate analyses for all individual circumstances. That determination is appropriately a matter for the judgment of the laboratories concerned. ACT, its members, and the task force that assisted in preparation of these guidelines make no warranty and assume no liability with respect to the information contained herein.

Amniotic Fluid↗
PubMed1988

Prenatal diagnosis of a de novo unbalanced translocation (4p+) following in vitro fertilization.

We report herein a de novo unbalanced chromosome translocation in a fetus resulting from in vitro fertilization technology. Prenatal diagnostic analysis of an amniotic fluid revealed a 46,XX,4p+ karyotype. The origin of the extra material on the short arm of chromosome 4 could not be identified by a variety of banding techniques. However, examination of fetal parts did reveal some dysmorphic features.

Adult↗