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Case Reports
. 1994 Jun;31(6):493-6.
doi: 10.1136/jmg.31.6.493.

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

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Case Reports

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

D Narayan et al. J Med Genet. 1994 Jun.

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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