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Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).
  1. D Narayan,
  2. S N Krishnan,
  3. M Upender,
  4. T S Ravikumar,
  5. M J Mahoney,
  6. T F Dolan, Jr,
  7. A S Teebi,
  8. G G Haddad
  1. Department of Surgery, Yale University School of Medicine, New Haven, Connecticut.

    Abstract

    Primary ciliary dyskinesia syndrome is characterised by chronic sinusitis, bronchiectasis, and, in 50% of cases, dextrocardia. It is generally believed to be inherited as an autosomal recessive disorder. In this report, we describe a family consisting of a mother and her five male children, the offspring of three different fathers, all of whom have this syndrome. This argues for either an X linked or autosomal dominant pattern of inheritance. Cytogenetic and FISH (fluorescent in situ hybridisation) analyses were done on the mother and one son and were found to be normal.

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