Absence of central microtubules and transposition in the ciliary apparatus of three siblings.
We studied the cases of three siblings with a history of chronic bronchitis and infertility. The electron-microscopic investigation of the tracheal and bronchial biopsies showed a ciliary defect consisting in the absence of the central microtubules and the transposition of a peripheral doublet. This is a rare and infrequently reported abnormality included in the primary ciliary diskinesia syndrome.
Departamento de Morfología, Hospital de Gran Canaria Dr. Negrín, Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Canary Islands, Spain.
G
G
Bautista-Harris
G
G
Julià-Serdà
F
F
Rodríguez de Castro
I
I
Santana-Benitez
P
P
Cabrera-Navarro
D000328:Adult; D001980:Bronchi / Q000473:pathology; D001991:Bronchitis / Q000235:genetics* / Q000473:pathology*; D002908:Chronic Disease; D002923:Cilia / Q000473:pathology*; D002925:Ciliary Motility Disorders / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D007246:Infertility / Q000235:genetics; D008297:Male; D008854:Microscopy, Electron; D008870:Microtubules / Q000473:pathology*; D014132:Trachea / Q000473:pathology