Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).
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.
Narayan
D
D
Department of Surgery, Yale University School of Medicine, New Haven, Connecticut.
Krishnan
S N
SN
Upender
M
M
Ravikumar
T S
TS
Mahoney
M J
MJ
Dolan
T F
TF
Teebi
A S
AS
Haddad
G G
GG
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
D004398:Dyneins