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Biomedical subjects

J L Watt

Publications and source records attributed to J L Watt.

46 records · Page 3Linked to original sources

Prenatal detection of Turner's syndrome in conjunction with trisomy 20 mosaicism (45,X/46, X, +0).

A case of Turner's syndrome, detected antenatally and complicated by the finding of trisomy 20 mosaicism in 50% of cells from each of two amniotic fluid cultures, is described. Cultures from seven fetal tissues in the subsequent abortus showed a predominance of 45,X cells, but nevertheless suggested the existence of a very low level of trisomy 20 mosaicism in three fetal tissues. The diagnostic dilemma in interpreting trisomy 20 mosaicism is discussed.

Adult↗

Clonal evolution of marker chromosomes in a case of myelofibrosis with myeloid metaplasia and myeloblastic transformation.

The diverse spectrum of acquired chromosome abnormalities in a female patient with myelofibrosis and myeloid metaplasia is described. A sequence of karyotypic evolution involving a ring chromosome is postulated. The terminal clinical picture was unusual in that there was obstructive renal failure from extramedullary myeloblastic transformation and infiltration of the bladder, and this was also present in other sites. Initially neutrophils showed low alkaline phosphatases activity but latterly two distinct populations in which cells had either high activity or none.

Alkaline Phosphatase↗

Reciprocal translocation and the Philadelphia chromosome.

We examined metaphases from three patients with chronic myeloid leukaemia and a typical Philadelphia chromosome with one chromosome 9 as the recipient to determine whether the 9q+22q- translocation is reciprocal. Good quality G-banded photographs of the chromosomes concerned were subjected to light absorption density analysis. This provided enlarged tracings corresponding to the relevant chromosome regions and so facilitated accurate measurement. This technique has unambiguously shown that the typical Philadelphia chromosome results from a reciprocal translocation and that probably no material is gained or lost in the exchange. Furthermorein a total of six patients for whom sequential G and C banding was performed, the chromosome 9 with the largest block of centromeric heterochromatin received the translocated material. We offer tentative explanations for this curious observation.

Azure Stains↗

Familial erythroleukaemia: a cytogenetic and haematological study.

Clinical and haematological details of 2 siblings with a familial myeloproliferative disorder (erythroleukaemia) are presented. Their father is presumed to have died from a similar disease. The 2 siblings showed similar but not identical chromosomal abnormalities detected initially in marrow and later in peripheral blood. Serial studies revealed the emergence of an increasingly diverse pattern of chromosomal changes coincident with the haematological and clinical progression of the disease. Other members of the family were screened for cytogenetic and haematological changes. The paternal sibship displayed an increased incidence of cancer.

Adult↗

Variation in the Philadelphia chromosome.

Cytogenetic study of 17 cases of chronic myeloid leukaemia has shown that the Philadelphia chromosome is a variable entity, differing in size and banding pattern between individuals.

Adult↗

Cytogenetic study of 10 cases of infectious mononucleosis.

Cytogenetic analysis of 10 cases of infectious mononucleosis has revealed increased damage in the form of chromosome breakage and aberrations typical of viral infection, but in addition a few cells were consistently found to harbour a deleted number 22, similar tsponse to the mitogen phytohaemagglutinin is suggested. This inhibitor appears to have a reversible action on the patient's own lymphocytes but no inhibitory effect on control lymphocytes.

Adolescent↗

Preventing feticide.

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Abortion, Spontaneous↗