Conflicting reports have been presented regarding the presence or absence of detectable chromosomal abnormalities in various collagen disorders. This study presents chromosome analyses of three members of a family with the Ehlers-Danlos syndrome. Their chromosomes were normal.
A brother and sister, exhibiting the clinical features of Ehlers-Danlos syndrome, were the probands. During the construction of the pedigree it was found that the unaffected mother had an offspring by a previous marriage. This son was free of any of the features of the disease. The father exhibited several characteristics of the disorder.
The pedigree of this family shows autosomal dominant transmission of the trait. A high degree of penetrance of the responsible gene(s) was indicated. The clinical features of the disease are reviewed briefly.
POMMERENING RA, ANTONIUS JI. Normal Chromosomes in a Family With Ehlers-Danlos Syndrome. Arch Dermatol. 1966;94(4):425–431. doi:10.1001/archderm.1966.01600280043008
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