Retinoblastoma - clinical and genetic aspects

A review

John Kenneth Cowell, J. Hungerford, M. Jay, P. Rutland

Research output: Contribution to journalReview article

3 Citations (Scopus)

Abstract

At present, therefore, it is possible to diagnose chromosome deletion carriers using ESD quantitation and also to follow the inheritance of the predisposition to Rb in a proportion of families. We have recently shown that both quantitative and qualitative analysis of the ESD enzyme can be carried out on samples derived from the chorionic villus (CV)12 as well as cultured CV samples. The CV tissue is produced by the fetus and destined to become the placenta. Most importantly, CV samples can be obtained in the first trimester of pregnancy, after only 6-8 weeks. Thus, a diagnosis can be made early in pregnancy compared with the 18-20 weeks which must elapse before fetal blood samples can be taken. The same CV samples could be used to prepare DNA which can be used for carrier detection using DNA probes as described above. We are, therefore, moving rapidly towards the time when it will be possible to offer prenatal diagnosis to all familial cases of Rb. A remaining challenge will be to determine the nature of the genetic changes which occur within the Rb predisposition gene leading to abnormal development of the retina and consequently tumour development. It may then be possible to determine whether isolated cases of Rb are truly sporadic or the beginning of a new hereditary line.

Original languageEnglish (US)
Pages (from-to)220-223
Number of pages4
JournalJournal of the Royal Society of Medicine
Volume81
Issue number4
StatePublished - Jan 1 1988
Externally publishedYes

Fingerprint

Chorionic Villi
Retinoblastoma
Retinoblastoma Genes
Chromosome Deletion
DNA Probes
First Pregnancy Trimester
Prenatal Diagnosis
Fetal Blood
Placenta
Retina
Fetus
Pregnancy
DNA
Enzymes
Neoplasms

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Retinoblastoma - clinical and genetic aspects : A review. / Cowell, John Kenneth; Hungerford, J.; Jay, M.; Rutland, P.

In: Journal of the Royal Society of Medicine, Vol. 81, No. 4, 01.01.1988, p. 220-223.

Research output: Contribution to journalReview article

Cowell, JK, Hungerford, J, Jay, M & Rutland, P 1988, 'Retinoblastoma - clinical and genetic aspects: A review', Journal of the Royal Society of Medicine, vol. 81, no. 4, pp. 220-223.
Cowell, John Kenneth ; Hungerford, J. ; Jay, M. ; Rutland, P. / Retinoblastoma - clinical and genetic aspects : A review. In: Journal of the Royal Society of Medicine. 1988 ; Vol. 81, No. 4. pp. 220-223.
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