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Biomedical subjects

S M Bowser-Riley

Publications and source records attributed to S M Bowser-Riley.

6 recordsLinked to original sources
PubMed1988

Secondary leukemia with a translocation (8;21)?

The clinical features and cytogenetic changes of acute myeloid leukemia (AML) developing 10 years after radiotherapy and chemotherapy (for osteosarcoma) are described. Features of both de novo AML [FAB M2 morphology, t(8;21), and "secondary leukemia" (additional cytogenetic changes, resistance to chemotherapy) were present. The importance of differentiation between primary and "therapy-linked" disease, and the difficulties in making such a distinction, are discussed.

Adult↗
PubMed1988

Are double translocations double trouble?

Double translocation heterozygotes are rare, but need not necessarily pose more of a counselling problem than single reciprocal translocation heterozygotes. Nine cases of double translocation are presented, together with a review of the few reports published to date. An attempt is made to provide simple counselling guidelines in the assessment of the risk of producing a liveborn abnormal child. This is not based on theoretical considerations of segregation patterns, but extrapolated from what is known empirically about the viable segregation patterns in carriers of single reciprocal translocations. It assumes that there is no interference with the independent assortment of the two separate exchanges, unless a common participating chromosome is involved. The possibility of an interchromosomal effect has not been taken into consideration.

Congenital Abnormalities↗
PubMed1984

A rare heterochromatic variant of chromosome 4.

A variant chromosome 4 with a large G positive heterochromatic block is described and discussed in relation to chromosome 4 heteromorphisms observed with other banding techniques. The extra heterochromatin is C positive and fluoresces brilliantly with Q banding, but differs from Yqh with some methods of staining.

Amniocentesis↗
PubMedDate not supplied

Chromosomal mosaicism in amniotic fluid cell cultures.

Six cases of chromosomal mosaicism detected in amniotic fluid cultures are described. In five of these there was no evidence of fetal mosaicism. In one case fetal mosaicism was demonstrated but only by the study of fibroblasts since blood cultures showed only normal cells. The implications of amniotic fluid mosaicism are discussed and it is concluded that this usually does not indicate fetal mosaicism. The value of repeated amniocentesis in the diagnosis of fetal mosaicism was demonstrated by findings in three of the cases. It is recommended that amniotic fluid cultures be harvested in situ for chromosome studies and that cytogenetic results be expressed as number of colonies karyotyped rather than as number of cells analyzed.

Adult↗