Human Genetics

, Volume 101, Issue 1, pp 88–92 | Cite as

Clinical and genetic heterogeneity in Meckel syndrome

  • Paulina Paavola
  • Riitta Salonen
  • Alessandra Baumer
  • Albert Schinzel
  • P. A. Boyd
  • Steve Gould
  • H. Meusburger
  • Romano Tenconi
  • Angela Barnicoat
  • Robin Winter
  • L. Peltonen
Original investigation

Abstract

Meckel syndrome (MKS) is a lethal malformation syndrome characterised by posterior meningoencephalocele, polycystic kidneys, fibrotic changes of the liver, and polydactyly. We have previously shown a linkage to chromosome 17q in 17 Finnish Meckel families. In this study we have analysed one Italian, one Austrian (of Turkish origin) and three British MKS families (Caucasian, Pakistani, and Bangladeshi families) for linkage to the MKS locus on chromosome 17q22–q24. We did not observe co-segregation of the disease and marker haplotypes in the Austrian family or in the three British families, of which two represented classical MKS and one a slightly atypical MKS phenotype with longer survival of the patient. In the Italian family the affected and non-affected children did not share the same maternal chromosome and thus this family could represent the same allelic disease as the Finnish MKS families. These results suggest locus heterogeneity in Meckel syndrome – a feature previously suspected based on the highly variable clinical phenotype.

Keywords

Clinical Phenotype Genetic Heterogeneity Longe Survival Fibrotic Change Locus Heterogeneity 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • Paulina Paavola
    • 1
  • Riitta Salonen
    • 2
  • Alessandra Baumer
    • 3
  • Albert Schinzel
    • 3
  • P. A. Boyd
    • 4
  • Steve Gould
    • 5
  • H. Meusburger
    • 6
  • Romano Tenconi
    • 7
  • Angela Barnicoat
    • 8
  • Robin Winter
    • 8
  • L. Peltonen
    • 1
  1. 1.Department of Human Molecular Genetics, National Public Health Institute, Mannerheimintie 166, FIN-00300 Helsinki, Finland Tel.: +358-9-474-4393; Fax: +358-9-474-4480; e-mail: Leena.Peltonen@ktl.fiFI
  2. 2.Prenatal Genetics, Dept of Obstetrics and Gynecology, Helsinki University Hospital, FinlandFI
  3. 3.Institute für Medizinische Genetik der Universität Zürich, SwitzerlandCH
  4. 4.Prenatal Diagnostics Unit, Women’s Centre, Oxford-Radcliffe Hospital, Oxford, UKGB
  5. 5.Paediatric Pathology, Oxford-Radcliffe Hospital, Oxford, UKGB
  6. 6.Department of Obstetrics and Gynecology, Hospital of Dornbirn, AustriaAT
  7. 7.Servizio di Genetica Medica, Dipartimento di Pediatria, Padua, ItalyIT
  8. 8.Department of Clinical Genetics, Institute of Child Health, London, UKGB

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