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Chediak-Higashi syndrome: description of a cluster in a Venezuelan-Andean isolated region.
- Source :
-
Journal of medicine [J Med] 1982; Vol. 13 (5-6), pp. 431-51. - Publication Year :
- 1982
-
Abstract
- Fourteen cases of the Chediak-Higashi syndrome found in twelve non-related families living in a defined geographical area not larger than 200 km2 of the Tachira State, Venezuela (population of around 72,000 inhabitants) were diagnosed between 1967 and 1974. The patients were pre-school or nursing age children except one eleven year old female. Six of the patients were male. All showed the same typical somatic characteristics of this syndrome. Four cases were 2 pairs of brothers. Consanguinity of the parents was seen in only two families, even though the majority of them come from the same restricted geographic zone (Pregonero). Since this anomaly is supposedly produced by a rare recessive autosomal gene, the existence of its high frequency in a small Venezuelan region may be explained through the "founder effect" in a population with a high inbreeding coefficient.
- Subjects :
- Chediak-Higashi Syndrome complications
Chediak-Higashi Syndrome epidemiology
Child
Child, Preschool
Escherichia coli Infections etiology
Female
Gene Frequency
Humans
Hyperbilirubinemia etiology
Infant
Male
Pneumococcal Infections etiology
Pseudomonas Infections etiology
Splenomegaly etiology
Suppuration etiology
Venezuela
Chediak-Higashi Syndrome genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0025-7850
- Volume :
- 13
- Issue :
- 5-6
- Database :
- MEDLINE
- Journal :
- Journal of medicine
- Publication Type :
- Academic Journal
- Accession number :
- 6763069