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

1994; BMJ; Volume: 31; Issue: 6 Linguagem: Inglês

10.1136/jmg.31.6.493

1468-6244

Deepak Narayan, S N Krishnan, Madhvi B. Upender, T. S. Ravikumar, M J Mahoney, Thomas F. Dolan, Ahmad S. Teebi, Gabriel G. Haddad,

Digestive system and related health

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.