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. 1994 Jun;31(6):493–496. doi: 10.1136/jmg.31.6.493

Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).

D Narayan 1, S N Krishnan 1, M Upender 1, T S Ravikumar 1, M J Mahoney 1, T F Dolan Jr 1, A S Teebi 1, G G Haddad 1
PMCID: PMC1049931  PMID: 8071978

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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Selected References

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