Narayan D, Krishnan S N, Upender M, Ravikumar T S, Mahoney M J, Dolan T F, Teebi A S, Haddad G G
Department of Surgery, Yale University School of Medicine, New Haven, Connecticut.
J Med Genet. 1994 Jun;31(6):493-6. doi: 10.1136/jmg.31.6.493.
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.
原发性纤毛运动障碍综合征的特征为慢性鼻窦炎、支气管扩张，50%的病例伴有右位心。一般认为它是以常染色体隐性障碍的方式遗传。在本报告中，我们描述了一个由一位母亲和她五个儿子组成的家庭，这五个儿子是三位不同父亲的后代，他们都患有这种综合征。这表明其遗传模式可能是X连锁或常染色体显性。对母亲和一个儿子进行了细胞遗传学和荧光原位杂交（FISH）分析，结果均正常。
