| Autor: |
Narayan, D, Krishnan, S N, Upender, M, Ravikumar, T S, Mahoney, M J, Dolan, T F, Teebi, A S, Haddad, G G |
| Zdroj: |
Journal of Medical Genetics; Jun1994, Vol. 31 Issue 6, p493-496, 4p |
| Abstrakt: |
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. [ABSTRACT FROM PUBLISHER] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
