Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problem

G. Novelli, M. Frontali, D. Baldini, C. Bosman, B. Dallapiccola, A. Pachi, F. Torcia

Research output: Contribution to journalArticle

Abstract

A prenatal diagnosis of adult polycystic kidney disease by DNA testing is reported. Evidence showing a linkage between the disease and the 3'HVR and 24.1 restriction fragment length polymorphisms(RFLPs) on chromosome 16 was ob obtained in the proband's family by linkage analysis of data and homogeneity testing with Italian families of the linked type. Fetal genotype prediction based on both flanking markers was confirmed by histological and ultrastructural findings in fetal kidneys.

Original languageEnglish
Pages (from-to)759-767
Number of pages9
JournalPrenatal Diagnosis
Volume9
Issue number11
Publication statusPublished - 1989

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Autosomal Dominant Polycystic Kidney
Chromosomes, Human, Pair 16
Genetic Heterogeneity
Information Storage and Retrieval
Prenatal Diagnosis
Genetic Markers
Restriction Fragment Length Polymorphisms
Genotype
Kidney
DNA

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

Cite this

Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problem. / Novelli, G.; Frontali, M.; Baldini, D.; Bosman, C.; Dallapiccola, B.; Pachi, A.; Torcia, F.

In: Prenatal Diagnosis, Vol. 9, No. 11, 1989, p. 759-767.

Research output: Contribution to journalArticle

Novelli, G, Frontali, M, Baldini, D, Bosman, C, Dallapiccola, B, Pachi, A & Torcia, F 1989, 'Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problem', Prenatal Diagnosis, vol. 9, no. 11, pp. 759-767.
Novelli, G. ; Frontali, M. ; Baldini, D. ; Bosman, C. ; Dallapiccola, B. ; Pachi, A. ; Torcia, F. / Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problem. In: Prenatal Diagnosis. 1989 ; Vol. 9, No. 11. pp. 759-767.
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