Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).
Open Access
- 1 June 1994
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 31 (6) , 493-496
- https://doi.org/10.1136/jmg.31.6.493
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.Keywords
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