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Biomedical subjects

E V Davison

Publications and source records attributed to E V Davison.

At least 37 records · Page 2Linked to original sources
PubMed1989

Chromosome 22 abnormalities in Ewing's sarcoma.

A child with disseminated Ewing's sarcoma underwent cytogenetic investigations which showed different structural rearrangements of chromosome 22 at diagnosis (?ring22), and at relapse [t(10;22)], but the classic translocation t(11;22) was not detectable. This case provides further evidence of the importance of chromosome 22 in this disease, while raising some questions about the central importance of the translocation between chromosomes 11 and 22.

Bone Neoplasms↗
PubMed1989

Chromosome studies of males in an institution for the mentally handicapped.

Karyotypes were examined in 512 (91.9%) of 557 male patients in an institution for the mentally handicapped. A total of 110 (21.5%) had an abnormal karyotype: 65 (12.7%) with Down's syndrome, 30 (5.9%) with the fragile X syndrome, 13 (2.5%) with autosomal anomalies other than Down's syndrome (12 unbalanced, one balanced), and two (0.4%) with sex chromosome anomalies.

Aneuploidy↗
PubMed1988

Multiple chromosome rearrangements in a childhood ependymoma.

Multiple karyotypically abnormal cell lines were observed in long-term cultures of an ependymoma of the fourth ventricle of a child. A previous report of a G-banded ependymoma karyotype described monosomy 8, trisomy 9, t(1;7)(p12;p13), and t(X;10)(q22-23;q24). This case also shows involvement of Xq22 and 10q24.

Cerebral Ventricle Neoplasms↗
PubMed1988

Translocation t (8;21) associated with marked granulocytic hyperplasia.

A 16-year-old boy with leukemia had a marked leucocytosis (165 x 10(9)/L) at presentation. The large number of neutrophils, myelocytes, and metamyelocytes and negative leucocyte alkaline phosphatase reaction raised the possibility of chronic myeloid leukemia. Cytogenetic analysis showed a deletion of chromosome 7, a t (8;21), a missing Y chromosome, and, in some cells, duplication of the der(21). The Philadelphia chromosome was not detected, nor was the breakpoint cluster region of chromosome 22 found to be rearranged. Myeloid leukemia with t (8;21) can therefore be associated with a greater degree of granulocytic hyperplasia than has so far been apparent, and cytogenetic analysis in this case has been crucial in distinguishing leukemia types.

Adolescent↗
PubMed1988

Cytogenetic abnormalities in a primitive neuroectodermal tumor.

Two distinct karyotypically abnormal cell lines were observed in cultures of a primitive neuroectodermal tumor. One involved multiple chromosome rearrangements, and the other an inversion of chromosome #7 and a t(3;10) showing an interstitial deletion of 3p; del(3)(p1?4p1?2). None of these rearrangements have been reported in previous descriptions of primitive neuroectodermal tumor karyotypes.

Child↗
PubMed1988

Cytogenetic investigations of solid tumours of children.

The association of non-random chromosome abnormalities with solid tumours of childhood may improve accuracy of diagnosis and prognosis and lead to a better understanding of their biology. In a pilot study in the Northern region of England fresh tumour biopsy specimens were obtained from 39 to 72 consecutive solid tumours in children who presented over a period of 21 months. Cytogenetic analysis was possible in 33 and clonal chromosomal abnormalities were detected in nine. In addition, seven of 10 tumours investigated after treatment were abnormal. Ten of these 16 abnormal karyotypes have not previously been described. This pilot study has shown that a concerted investigation of tumour cytogenetics is possible. A multicentre study is essential if our knowledge of basic tumour cytogenetics is to progress.

Biopsy↗
PubMed1987

Familial myelodysplasia: progressive disease associated with emergency of monosomy 7.

Two brothers developed hypoplastic anaemia with the development in one of refractory anaemia with excess blasts (RAEB) accompanied by emergence of monosomy 7. Both brothers have a constitutional inversion of chromosome 1. Neither shows the increased chromosomal fragility of Fanconi's anaemia or its variants. This family is the third reported in which monosomy 7 has been found when leukaemic or preleukaemic transformation has occurred in patients with familial hypoplastic anaemia.

Adolescent↗
PubMed1987

Chromosomes of metastatic retinoblastoma.

Chromosomal abnormalities were detected in the bone marrow of a girl with disseminated retinoblastoma. One of these abnormalities, i(6p), is characteristic of primary retinoblastoma and its presence confirmed the diagnosis of bone marrow infiltration with retinoblastoma. This approach could be extended to study other tumours of childhood.

Biopsy↗
PubMed1987

Cytogenic investigations in the assessment of response to treatment in neuroblastoma.

In a patient with stage IV disseminated neuroblastoma treated by chemotherapy extensive cytogenetic investigations were performed on the residual primary tumour and bone marrow immediately before myeloablative treatment and autologous marrow rescue. Two abnormal clones both showing lp+, a characteristic abnormality of neuroblastoma, were detected in cells from the residual primary tumour, providing direct evidence of persisting viable tumour. Such investigations should be a routine part of the assessment of response to treatment in patients with neuroblastoma, and could be extended to others in whom "second look" surgery is performed.

Adrenal Gland Neoplasms↗
PubMed1986

High resolution chromosome results in retinoblastoma families.

In three families in the North of England, where retinoblastoma is transmitted, 41 members were studied by high resolution chromosome banding at the 500+ and 900+ levels. None of the 10 affected individuals or their normal relatives showed any deletion in the 13q14 region.

Chromosome Banding↗
PubMed1986

A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.

A female infant with peripheral pulmonary artery stenosis, growth retardation, and developmental delay was noticed to have facial features consistent with a diagnosis of Williams syndrome. Chromosome analysis revealed a deletion of the terminal portion of the long arm of chromosome 4 (4q33----qter). This is the seventh reported case of this chromosome disorder. It is possible that this chromosome region is specific for the Williams syndrome phenotype but it is more likely that the syndrome is heterogeneous. Chromosome analysis should be performed in all suspected cases with particular attention to the long arm of chromosome 4.

Chromosome Deletion↗
PubMed1984

Partial trisomy 16 as a result of familial 16;20 translocation.

Although trisomy 16 is well recognised in spontaneous abortuses, it is infrequent in livebirths and there is little information about the clinical effects. We report two sibs with partial trisomy 16q resulting in infant death. Both children were severely growth retarded with small elfin faces, prominent foreheads, low set ears, abnormal external genitalia, and intractable diarrhoea.

Abnormalities, Multiple↗
PubMed1979

Translocation C:D involving chromosomes 11 and 14.

A translocation of material from chromosome 11 to chromosome 14 was identified in a 7-month-old male with microcephaly and developmental delay. The break-points appear to be on the long arm of chromosome 11, close to the centromere, and on the short arm of the 14.

Chromosomes, Human, 13-15↗