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Prevalence and genetics of immotile-cilia syndrome and left-handedness

Afzelius, Bjorn A. and Stenram, Unne LU (2006) In International Journal of Developmental Biology 50(6). p.571-573
Abstract
Immotile-cilia syndrome is characterized by severe respiratory distress from early infancy, and also often by situs inversus. The first description of the disease was based on just four persons, but reasons were given to suggest that the disorder may not be exceedingly rare. The purpose of the present study was to estimate just how rare or how common it is and to evaluate its association with situs inversus and with left-handedness. Data were mainly obtained from contacting a large number of Swedish clinicians who kindly informed us about their patients with suspected immotile-cilia syndrome. Diagnosis was in most cases performed by electron micro-scopical examination of nasal cilia or of spermatozoa. Based on these data, the prevalence of... (More)
Immotile-cilia syndrome is characterized by severe respiratory distress from early infancy, and also often by situs inversus. The first description of the disease was based on just four persons, but reasons were given to suggest that the disorder may not be exceedingly rare. The purpose of the present study was to estimate just how rare or how common it is and to evaluate its association with situs inversus and with left-handedness. Data were mainly obtained from contacting a large number of Swedish clinicians who kindly informed us about their patients with suspected immotile-cilia syndrome. Diagnosis was in most cases performed by electron micro-scopical examination of nasal cilia or of spermatozoa. Based on these data, the prevalence of the syndrome in Sweden with or without situs inversus was estimated to be not far from 1 in 10,000. The syndrome consists of several subgroups that have a randomized determination of situs asymmetry (50% of these have situs inversus) and one subgroup in which situs inversus is not found. This results in a frequency of situs inversus in the syndrome of about 44%. Left-handedness is no more common than it is in healthy persons and no more often associated with situs inversus than with situs solitus. In all cases it is about 14%. It is concluded that the two major anatomical/physiological asymmetries of the human body are found with frequencies which indicate that they develop independently of each other. Both conditions appear with prevalences that may have changed at a secular scale, left-handedness with a substantial increase and situs inversus with a less dramatic increase. (Less)
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author
and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
situs inversus, left-handedness, Kartagener syndrome, primmy ciliary dyskinesia, PCD
in
International Journal of Developmental Biology
volume
50
issue
6
pages
571 - 573
publisher
U B C Press
external identifiers
  • wos:000239034300007
  • scopus:33746339499
  • pmid:16741872
ISSN
1696-3547
DOI
10.1387/ijdb.052132ba
language
English
LU publication?
yes
additional info
The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000)
id
8bb165c5-eea0-4f82-9b06-ed9c3cb26223 (old id 402201)
date added to LUP
2016-04-01 11:50:08
date last changed
2021-10-06 04:54:17
@article{8bb165c5-eea0-4f82-9b06-ed9c3cb26223,
  abstract     = {Immotile-cilia syndrome is characterized by severe respiratory distress from early infancy, and also often by situs inversus. The first description of the disease was based on just four persons, but reasons were given to suggest that the disorder may not be exceedingly rare. The purpose of the present study was to estimate just how rare or how common it is and to evaluate its association with situs inversus and with left-handedness. Data were mainly obtained from contacting a large number of Swedish clinicians who kindly informed us about their patients with suspected immotile-cilia syndrome. Diagnosis was in most cases performed by electron micro-scopical examination of nasal cilia or of spermatozoa. Based on these data, the prevalence of the syndrome in Sweden with or without situs inversus was estimated to be not far from 1 in 10,000. The syndrome consists of several subgroups that have a randomized determination of situs asymmetry (50% of these have situs inversus) and one subgroup in which situs inversus is not found. This results in a frequency of situs inversus in the syndrome of about 44%. Left-handedness is no more common than it is in healthy persons and no more often associated with situs inversus than with situs solitus. In all cases it is about 14%. It is concluded that the two major anatomical/physiological asymmetries of the human body are found with frequencies which indicate that they develop independently of each other. Both conditions appear with prevalences that may have changed at a secular scale, left-handedness with a substantial increase and situs inversus with a less dramatic increase.},
  author       = {Afzelius, Bjorn A. and Stenram, Unne},
  issn         = {1696-3547},
  language     = {eng},
  number       = {6},
  pages        = {571--573},
  publisher    = {U B C Press},
  series       = {International Journal of Developmental Biology},
  title        = {Prevalence and genetics of immotile-cilia syndrome and left-handedness},
  url          = {http://dx.doi.org/10.1387/ijdb.052132ba},
  doi          = {10.1387/ijdb.052132ba},
  volume       = {50},
  year         = {2006},
}