title: Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).
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.
authors.affiliation: Department of Surgery, Yale University School of Medicine, New Haven, Connecticut.
authors.forename: D
authors.initials: D
authors.lastname: Narayan
authors.forename: S N
authors.initials: SN
authors.lastname: Krishnan
authors.forename: M
authors.initials: M
authors.lastname: Upender
authors.forename: T S
authors.initials: TS
authors.lastname: Ravikumar
authors.forename: M J
authors.initials: MJ
authors.lastname: Mahoney
authors.forename: T F
authors.initials: TF
authors.lastname: Dolan
authors.forename: A S
authors.initials: AS
authors.lastname: Teebi
authors.forename: G G
authors.initials: GG
authors.lastname: Haddad
mesh_terms: D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D004398:Dyneins / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007619:Kartagener Syndrome / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: D004398:Dyneins