Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness

Article Abstract:

A novel autosomal recessive familial histiocytosis has been identified in a large consanguineous family from Pakistan. The form of histiocytosis is unlike any recognized classes of the disease and is associated with joint contractures and sensorineural deafness in this family. Through autozygosity mapping, a homozygous region of about 1 cM has been identified in chromosome 11q25. Marker D11S968 has the maximum two-point LOD score.

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An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects

Article Abstract:

Modifier effects may be linked to phenotypic variation in von Hippel-Lindau (VHL) disease. Phenotypic variation, which is responsible for tumor susceptibility in the VHL cancer syndrome, is affected by environmental and genetic factors acting at multiple sites. Tumor distribution in gene carriers was different from anticipated stochastic distributions, indicating other factors.

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Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: increased incidence in cases of paternal origin

Article Abstract:

Epidemiological research of Down's syndrome in the Spanish city of El Valles revealed a rise in disomy in cases of paternal origin. While most fathers of Down's syndrome children did not have a significant difference in chromosome 21 disomy from the control population, a large increase was discovered in the fathers of children whose syndrome was of paternal origin.

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